Publikationen der Klinik und Poliklinik für Kinder- und Jugendmedizin

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Hypereosinophilic Syndrome After Liver Transplantation: A Case Report and a Review of the Literature
Aulbert W, Kobbe R, Breuer C, Briem-Richter A, Schäfer H, Brinkert F, Dettmar A, Kemper M, Grabhorn E
TRANSPLANTATION. 2017;101(5):e166-e169.

Clinical and Laboratory Consequences of Platelet Transfusion in Shiga Toxin-Mediated Hemolytic Uremic Syndrome
Beneke J, Sartison A, Kielstein J, Haller H, Nitschke M, Kunzendorf U, Loos S, Kemper M, Stahl R, Menne J
TRANSFUS MED REV. 2017;31(1):51-55.

Effect of patent ductus arteriosus and patent foramen ovale on left ventricular stroke volume measurement by electrical velocimetry in comparison to transthoracic echocardiography in neonates
Blohm M, Hartwich J, Obrecht D, Kersten J, Singer D
J CLIN MONIT COMPUT. 2017;31(3):589-598.

The Natural History of Canavan Disease: Description of 23 New Cases and Comparison with Literature
Bohnenpoll J, Eichler F, Schoen G, Hischke S, Denecke J, Hempel M, Kohlschütter A, Bley A
NEUROPEDIATRICS. 2017;48(S 01):26.

Enzymatic characterization of novel arylsulfatase A variants using human arylsulfatase A-deficient immortalized mesenchymal stromal cells
Böhringer J, Santer R, Schumacher N, Gieseke F, Cornils K, Pechan M, Kustermann-Kuhn B, Handgretinger R, Schöls L, Harzer K, Krägeloh-Mann I, Müller I
HUM MUTAT. 2017.

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Boy N, Mühlhausen C, Maier E, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg C, Harting I, Hoffmann G, Karall D, Koeller D, Krawinkel M, Okun J, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S
J INHERIT METAB DIS. 2017;40(1):75-101.

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2
Coady M, El Tarazi A, Santer R, Bissonnette P, Sasseville L, Calado J, Lussier Y, Dumayne C, Bichet D, Lapointe J
J AM SOC NEPHROL. 2017;28(1):85-93.

Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
Dröge C, Bonus M, Baumann U, Klindt C, Lainka E, Kathemann S, Brinkert F, Grabhorn E, Pfister E, Wenning D, Fichtner A, Gotthardt D, Weiss K, McKiernan P, Puri R, Verma I, Kluge S, Gohlke H, Schmitt L, Kubitz R, Häussinger D, Keitel V
J HEPATOL. 2017 [Epub ahead of print].

The Mutation p.D313Y is Associated with Organ Manifestation in Fabry Disease
du Moulin M, Koehn A, Golsari A, Dulz S, Atiskova Y, Patten M, Münch J, Avanesov M, Ullrich K, Muschol N
CLIN GENET. 2017 [Epub ahead of print].

Glutaric Aciduria Type 1 and Acute Renal Failure
du Moulin M, Thies B, Blohm M, Oh J, Kemper M, Santer R, Mühlhausen C
JIMD reports. 2017 [Epub ahead of print].

Assessment of the HIV-1 reservoir in CD4+ regulatory T cells by a Droplet Digital PCR based approach
Dunay G, Solomatina A, Kummer S, Hüfner A, Bialek J, Eberhard J, Tolosa E, Hauber J, Wiesch J
VIRUS RES. 2017 [Epub ahead of print].

Lessons learned from additional research analyses of unsolved clinical exome cases
Eldomery M, Coban-Akdemir Z, Harel T, Rosenfeld J, Gambin T, Stray-Pedersen A, Küry S, Mercier S, Lessel D, Denecke J, Wiszniewski W, Penney S, Liu P, Bi W, Lalani S, Schaaf C, Wangler M, Bacino C, Lewis R, Potocki L, Graham B, Belmont J, Scaglia F, Orange J, Jhangiani S, Chiang T, Doddapaneni H, Hu J, Muzny D, Xia F, Beaudet A, Boerwinkle E, Eng C, Plon S, Sutton V, Gibbs R, Posey J, Yang Y, Lupski J
GENOME MED. 2017;9(1):26.

Sehstörung und Parästhesien mit seltener Ursache
Guder P, Johannsen J, Weiss D, Lischka T, Denecke J
MONATSSCHR KINDERH. 2017.

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study
Harmatz P, Mengel E, Geberhiwot T, Muschol N, Hendriksz C, Burton B, Jameson E, Berger K, Jester A, Treadwell M, Sisic Z, Decker C
AM J MED GENET A. 2017;173(2):375-383.

Application of ICP-MS and HPLC-ICP-MS for diagnosis and therapy of a severe intoxication with hexavalent chromium and inorganic arsenic
Heitland P, Blohm M, Breuer C, Brinkert F, Achilles E, Pukite I, Köster H
J TRACE ELEM MED BIO. 2017;41:36-40.

Compound heterozygous GATA5 mutations in a girl with hydrops fetalis, congenital heart defects and genital anomalies
Hempel M, Casar Tena T, Diehl T, Burczyk M, Strom T, Kubisch C, Philipp M, Lessel D
HUM GENET. 2017;136(3):339-346.

LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study
Hempel M, Kremer L, Tsiakas K, Alhaddad B, Haack T, Löbel U, Feichtinger R, Sperl W, Prokisch H, Mayr J, Santer R
MITOCHONDRION. 2017.

The first case of domino-split-liver transplantation in maple syrup urine disease
Herden U, Li J, Fischer L, Brinkert F, Blohm M, Santer R, Nashan B, Grabhorn E
PEDIATR TRANSPLANT. 2017 [Epub ahead of print].

Liver transplantation as a potentially lifesaving measure in neuroblastoma stage 4S
Holsten T, Schuster T, Grabhorn E, Hero B, Frühwald M
PEDIATR HEMAT ONCOL. 2017;34(1):17-23.

Hepatic shear wave elastography in children under free-breathing and breath-hold conditions
Jung C, Groth M, Petersen K, Hammel A, Brinkert F, Grabhorn E, Weidemann S, Busch J, Adam G, Herrmann J
EUR RADIOL. 2017 [Epub ahead of print].

Haemolytic uraemic syndrome
Karpman D, Loos S, Tati R, Arvidsson I
J INTERN MED. 2017;281(2):123-148.

Akutes Nierenversagen bei Urachuszyste?
Klaassen I, Wolf M, Kemper M, Riechardt S, Boettcher M, Herrmann J, Singer D
Z GEBURTSH NEONATOL . 2017;221(2):88-91.

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome
Klemann C, Esquivel M, Magerus-Chatinet A, Lorenz M, Fuchs I, Neveux N, Castelle M, Rohr J, Bettoni da Cunha C, Ebinger M, Kobbe R, Kremens B, Kollert F, Gambineri E, Lehmberg K, Seidel M, Siepermann K, Voelker T, Schuster V, Goldacker S, Schwarz K, Speckmann C, Picard C, Fischer A, Rieux-Laucat F, Ehl S, Rensing-Ehl A, Neven B
HAEMATOLOGICA. 2017;102(2):e52-e56.

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features
Kloth K, Denecke J, Hempel M, Johannsen J, Strom T, Kubisch C, Lessel D
EUR J MED GENET. 2017;60(9):494-498.

Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS)
Kuemmerle-Deschner J, Ozen S, Tyrrell P, Kone-Paut I, Goldbach-Mansky R, Lachmann H, Blank N, Hoffman H, Weissbarth-Riedel E, Hugle B, Kallinich T, Gattorno M, Gul A, Ter Haar N, Oswald M, Dedeoglu F, Cantarini L, Benseler S
ANN RHEUM DIS. 2017;76(6):942-947.

Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome
Oud M, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen M, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale C, Wanders R, Pals S, Ocaka L, James C, Müller I, Lehmberg K, Strom T, Engels H, Williams H, Beales P, Roepman R, Dias P, Brunner H, Cobben J, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies E, de Sousa S, Lessel D, Arts H, Kuijpers T
AM J HUM GENET. 2017;100(2):281-296.

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy
Park J, Hogrebe M, Fobker M, Brackmann R, Fiedler B, Reunert J, Rust S, Tsiakas K, Santer R, Grüneberg M, Marquardt T
GENET MED. 2017 [Epub ahead of print].

Severe bone loss and multiple fractures in SCN8A-related epileptic encephalopathy
Rolvien T, Butscheidt S, Jeschke A, Neu A, Denecke J, Kubisch C, Meisler M, Pueschel K, Barvencik F, Yorgan T, Oheim R, Schinke T, Amling M
BONE. 2017 [Epub ahead of print].

Health-related quality of life after combined liver and kidney transplantation in children
Schmaeschke K, Lezius S, Grabhorn E, Kemper M, Brinkert F
PEDIATR TRANSPLANT. 2017;21(4):.

Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation, and mitochondria architecture
Schmiesing J, Lohmöller B, Schweizer M, Tidow H, Gersting S, Muntau A, Braulke T, Mühlhausen C
HUM MOL GENET. 2017;26(3):538-551.

Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5
Simonati A, Williams R, Nardocci N, Laine M, Battini R, Schulz A, Garavaglia B, Moro M, Pezzini F, Santorelli F
DEV MED CHILD NEUROL. 2017;59(8):815-821.

Physiologie der Atmung im Kindesalter.
Singer D
2017. Beatmung von Kindern, Neugeborenen und Frühgeborenen. Humberg A, Herting E, Göpel W, Härtel C (Hrsg.). 1. Aufl. Georg Thieme Verlag , 33-56.

No evidence that genetic variation in the myeloid-derived suppressor cell pathway influences ovarian cancer survival
Sucheston-Campbell L, Cannioto R, Clay A, Etter J, Eng K, Liu S, Battaglia S, Hu Q, Szender J, Minlikeeva A, Joseph J, Mayor P, Abrams S, Segal B, Wallace P, Soh K, Zsiros E, Anton-Culver H, Bandera E, Beckmann M, Berchuck A, Bjørge L, Bruegl A, Campbell I, Campbell S, Chenevix-Trench G, Cramer D, Dansonka-Mieszkowska A, Dao F, Diergaarde B, Doerk T, Doherty J, du Bois A, Eccles D, Engelholm S, Fasching P, Gayther S, Gentry-Maharaj A, Glasspool R, Goodman M, Gronwald J, Harter P, Hein A, Heitz F, Hillemmanns P, Hogdall C, Høgdall E, Huzarski T, Jensen A, Johnatty S, Jung A, Karlan B, Klapdor R, Kluz T, Konopka B, Krüger Kjær S, Kupryjanczyk J, Lambrechts D, Lester J, Lubiński J, Levine D, Lundvall L, McGuire V, McNeish I, Menon U, Modugno F, Ness R, Orsulic S, Paul J, Pearce C, Pejovic T, Pharoah P, Ramus S, Rothstein J, Rossing M, Rübner M, Schildkraut J, Schmalfeldt B, Schwaab I, Siddiqui N, Sieh W, Sobiczewski P, Song H, Terry K, Van Nieuwenhuysen E, Vanderstichele A, Vergote I, Walsh C, Webb P, Wentzensen N, Whittemore A, Wu A, Ziogas A, Odunsi K, Chang-Claude J, Goode E, Moysich K
CANCER EPIDEM BIOMAR. 2017;26(3):420-424.

Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm
Tegtmeyer D, Seidl M, Gerner P, Baumann U, Klemann C
PEDIATR ALLERGY IMMU-UK. 2017;28(5):412-429.

Retrospective analysis on thermal injuries in children-Demographic, etiological and clinical data of German and Austrian pediatric hospitals 2006-2015-Approaching the new German burn registry
Tegtmeyer L, Herrnstadt G, Maier S, Thamm O, Klinke M, Reinshagen K, Koenigs I
BURNS. 2017 [Epub ahead of print].

Key European guidelines for the diagnosis and management of patients with phenylketonuria
van Spronsen F, van Wegberg A, Ahring K, Bélanger-Quintana A, Blau N, Bosch A, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts S, Kearney S, Leuzzi V, Maillot F, Muntau A, Trefz F, van Rijn M, Walter J, MacDonald A
LANCET DIABETES ENDO. 2017.

Management Strategies for CLN2 Disease
Williams R, Adams H, Blohm M, Cohen-Pfeffer J, de Los Reyes E, Denecke J, Drago K, Fairhurst C, Frazier M, Guelbert N, Kiss S, Kofler A, Lawson J, Lehwald L, Leung M, Mikhaylova S, Mink J, Nickel M, Shediac R, Sims K, Specchio N, Topcu M, von Löbbecke I, West A, Zernikow B, Schulz A
PEDIATR NEUROL. 2017;69:102-112.

Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism
Zeltner N, Baumgartner M, Bondarenko A, Ensenauer R, Karall D, Kölker S, Mühlhausen C, Scholl-Bürgi S, Thimm E, Quitmann J, Burgard P, Landolt M, Huemer M
JIMD reports. 2017 [Epub ahead of print].

Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents
Zeltner N, Landolt M, Baumgartner M, Lageder S, Quitmann J, Sommer R, Karall D, Mühlhausen C, Schlune A, Scholl-Bürgi S, Huemer M
JIMD reports. 2017;31:1-9.

TMEM165 Deficiency: Postnatal Changes in Glycosylation
Althoff S, Grüneberg M, Reunert J, Park J, Rust S, Mühlhausen C, Wada Y, Santer R, Marquardt T
2016. JIMD Reports. 1. Aufl. Springer Berlin, 21-29.

Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis
Bäumer T, Bühring N, Schelle T, Münchau A, Muschol N
DEV MED CHILD NEUROL. 2016;58(11):1172-1179.

Single-chain antibody-fragment M6P-1 possesses a mannose 6-phosphate monosaccharide-specific binding pocket that distinguishes N-glycan phosphorylation in a branch-specific manner
Blackler R, Evans D, Smith D, Cummings R, Brooks C, Braulke T, Liu X, Evans S, Müller-Loennies S
GLYCOBIOLOGY. 2016;26(2):181-192.

Cardiovascular biomarkers in paired maternal and umbilical cord blood samples at term and near term delivery
Blohm M, Arndt F, Sandig J, Diehl W, Zeller T, Mueller G, Schlesner C, Mir T, Blankenberg S, Hecher K, Singer D, Weil J
EARLY HUM DEV. 2016;94:7-12.

Unterarmgangrän bei "normaler" Gerinnung.
Blohm M, Lehmberg K, Schrum J, Helmke K, Ridderbusch I, Schneppenheim R, Singer D
Z GEBURTSH NEONATOL . 2016;220:133-134.

Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7
Brandenstein L, Schweizer M, Sedlacik J, Fiehler J, Storch S
HUM MOL GENET. 2016;25(4):777-91.

Hip Morphology in MPS-1H Patients: An MRI-based Study
Breyer S, Muschol N, Schmidt M, Rupprecht M, Babin K, Herrmann J, Stücker R
J PEDIATR ORTHOPED. 2016 [Epub ahead of print].

Two Cases of Hepatosplenic T-Cell Lymphoma in Adolescents Treated for Autoimmune Hepatitis
Brinkert F, Arrenberg P, Krech T, Grabhorn E, Lohse A, Schramm C
PEDIATRICS. 2016;138(3):e20154245.

The implementation of systematic pain and sedation management has no impact on outcome in extremely preterm infants
Deindl P, Giordano V, Fuiko R, Waldhoer T, Unterasinger L, Berger A, Olischar M
ACTA PAEDIATR. 2016;105(7):798-805.

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
Depner M, Fuchs S, Raabe J, Frede N, Glocker C, Doffinger R, Gkrania-Klotsas E, Kumararatne D, Atkinson T, Schroeder H, Niehues T, Dückers G, Stray-Pedersen A, Baumann U, Schmidt R, Franco J, Orrego J, Ben-Shoshan M, McCusker C, Jacob C, Carneiro-Sampaio M, Devlin L, Edgar J, Henderson P, Russell R, Skytte A, Seneviratne S, Wanders J, Stauss H, Meyts I, Moens L, Jesenak M, Kobbe R, Borte S, Borte M, Wright D, Hagin D, Torgerson T, Grimbacher B
J CLIN IMMUNOL. 2016;36(1):73-84.

Infection-Related Focal Segmental Glomerulosclerosis in Children
Dettmar A, Oh J
BIOMED RES INT . 2016;2016:7351964.

Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis
Diez-Fernandez C, Rüfenacht V, Santra S, Lund A, Santer R, Lindner M, Tangeraas T, Unsinn C, de Lonlay P, Burlina A, van Karnebeek C, Häberle J
GENET MED. 2016;18(10):991-1000.

Novel morphological macular findings in juvenile CLN3 disease
Dulz S, Wagenfeld L, Nickel M, Richard G, Schwartz R, Bartsch U, Kohlschütter A, Schulz A
BRIT J OPHTHALMOL. 2016;100(6):824-8.

Metachromatic Leukodystrophy: An Assessment of Disease Burden
Eichler F, Cox T, Crombez E, Dali C, Kohlschütter A
J CHILD NEUROL. 2016;31(13):1457-1463.

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis
Fietz M, AlSayed M, Burke D, Cohen-Pfeffer J, Cooper J, Dvořáková L, Giugliani R, Izzo E, Jahnová H, Lukacs Z, Mole S, Noher de Halac I, Pearce D, Poupetova H, Schulz A, Specchio N, Xin W, Miller N
MOL GENET METAB. 2016;119(1-2):160-7.

Homooligomerization of ABCA3 and its functional significance
Frixel S, Lotz-Havla A, Kern S, Kaltenborn E, Wittmann T, Gersting S, Muntau A, Zarbock R, Griese M
INT J MOL MED. 2016;38(2):558-66.

Sternumaplasie (Sternal Cleft).
Gerling J, Boettcher M, Mietzsch S, Pawlik M, Klaassen I, Hempel M, Reinshagen K, Singer D
Z GEBURTSH NEONATOL . 2016;220:269-270.

Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation
Ghoussaini M, French J, Michailidou K, Nord S, Beesley J, Canisus S, Hillman K, Kaufmann S, Sivakumaran H, Moradi Marjaneh M, Lee J, Dennis J, Bolla M, Wang Q, Dicks E, Milne R, Hopper J, Southey M, Schmidt M, Broeks A, Muir K, Lophatananon A, Fasching P, Fletcher O, Johnson N, Sawyer E, Tomlinson I, Burwinkel B, Marme F, Guénel P, Truong T, Bojesen S, Flyger H, Benitez J, González-Neira A, Alonso M, Pita G, Neuhausen S, Anton-Culver H, Brenner H, Arndt V, Meindl A, Schmutzler R, Brauch H, Hamann U, Tessier D, Vincent D, Nevanlinna H, Khan S, Matsuo K, Ito H, Dörk T, Bogdanova N, Lindblom A, Margolin S, Mannermaa A, Kosma V, Wu A, van den Berg D, Lambrechts D, Floris G, Chang-Claude J, Rudolph A, Radice P, Barile M, Couch F, Hallberg E, Giles G, Haiman C, Le Marchand L, Goldberg M, Teo S, Yip C, Borresen-Dale A, Zheng W, Cai Q, Winqvist R, Pylkäs K, Andrulis I, Devilee P, Tollenaar R, García-Closas M, Figueroa J, Hall P, Czene K, Brand J, Darabi H, Eriksson M, Hooning M, Koppert L, Li J, Shu X, Zheng Y, Cox A, Cross S, Shah M, Rhenius V, Choi J, Kang D, Hartman M, Chia K, Kabisch M, Torres D, Luccarini C, Conroy D, Jakubowska A, Lubinski J, Sangrajrang S, Brennan P, Olswold C, Slager S, Shen C, Hou M, Swerdlow A, Schoemaker M, Simard J, Pharoah P, Kristensen V, Chenevix-Trench G, Easton D, Dunning A, Edwards S
AM J HUM GENET. 2016;99(4):903-911.

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results: survey results
Giżewska M, MacDonald A, Bélanger-Quintana A, Burlina A, Cleary M, Coşkun T, Feillet F, Muntau A, Trefz F, van Spronsen F, Blau N
EUR J PEDIATR. 2016;175(2):261-72.

Secretory Activity of Neutrophils Correlates With Genotype in Familial Mediterranean Fever
Gohar F, Orak B, Kallinich T, Jeske M, Lieber M, von Bernuth H, Giese A, Weissbarth-Riedel E, Haas J, Dressler F, Holzinger D, Lohse P, Neudorf U, Lainka E, Hinze C, Masjosthusmann K, Kessel C, Weinhage T, Foell D, Wittkowski H
ARTHRITIS RHEUM-US. 2016;68(12):3010-3022.

Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients
Groeschel S, Kühl J, Bley A, Kehrer C, Weschke B, Döring M, Böhringer J, Schrum J, Santer R, Kohlschütter A, Krägeloh-Mann I, Müller I
JAMA NEUROL. 2016;73(9):1133-40.

Neurological sequelae of healthcare-associated sepsis in very-low-birthweight infants: Umbrella review and evidence-based outcome tree
Haller S, Deindl P, Cassini A, Suetens C, Zingg W, Abu Sin M, Velasco E, Weiss B, Ducomble T, Sixtensson M, Eckmanns T, Harder T
EUROSURVEILLANCE. 2016;21(8):11-20.

Neurological sequelae of sepsis in very low birth weight infants: Umbrella review and evidence-based outcome tree Eurosurveillance
Haller S, Deindl P, Cassini A, Suetens C, Zingg W, Abu Sin M, Velasco E, Weiß B, Ducomble T, Sixtensson M, Eckmanns T, Harder T
EUROSURVEILLANCE. 2016;21(8):..

Computerized patient identification for the EMBRACA clinical trial using real-time data from the PRAEGNANT network for metastatic breast cancer patients
Hein A, Gass P, Walter C, Taran F, Hartkopf A, Overkamp F, Kolberg H, Hadji P, Tesch H, Ettl J, Wuerstlein R, Lounsbury D, Lux M, Lüftner D, Wallwiener M, Müller V, Belleville E, Janni W, Fehm T, Wallwiener D, Ganslandt T, Ruebner M, Beckmann M, Schneeweiss A, Fasching P, Brucker S
BREAST CANCER RES TR. 2016;158(1):59-65.

Impact of age at onset and newborn screening on outcome in organic acidurias
Heringer J, Valayannopoulos V, Lund A, Wijburg F, Freisinger P, Barić I, Baumgartner M, Burgard P, Burlina A, Chapman K, I Saladelafont E, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter J, Zeman J, Chabrol B, Kölker S
J INHERIT METAB DIS. 2016;39(3):341-353.

Notfallmedizinische Forschungsergebnisse 2015/2016 für die Praxis
Hinkelbein J, Braunecker S, Neuhaus C, Drinhaus H, Bernhard M, Struck M, Bieler D, Trentzsch H, Thiele H, Singer D, Böttiger B
Notfallmedizin up2date. 2016;11(04):385-404.

Notfallmedizinische Forschungsergebnisse 2015/2016 für die Praxis
Hinkelbein J, Braunecker S, Neuhaus C, Drinhaus H, Bernhard M, Struck M, Bieler D, Trentzsch H, Thiele H, Singer D, Böttiger B
Notfallmedizin up2date. 2016;11(04):405-424.

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Jamiolkowski D, Kölker S, Glahn E, Barić I, Zeman J, Baumgartner M, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P
J INHERIT METAB DIS. 2016;39(2):231-241.

Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7
Jankowiak W, Brandenstein L, Dulz S, Hagel C, Storch S, Bartsch U
INVEST OPHTH VIS SCI. 2016;57(11):4989-4998.

Exome Sequencing is a Valuable Approach in Critically Ill Patients with Suspected Monogenic Disease: Diagnosis of X-linked Centronuclear Myopathy in Preterm Twins
Johannsen J, Hempel M, Diehl T, Haack T, Denecke J
PEDIATR NEONATOL. 2016 [Epub ahead of print].

Considering Valproate as a Risk Factor for Rapid Exacerbation of Complex Movement Disorder in Progressed Stages of Late-Infantile CLN2 Disease
Johannsen J, Nickel M, Schulz A, Denecke J
NEUROPEDIATRICS. 2016;47(3):194-6.

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types
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CANCER DISCOV. 2016;6(9):1052-67.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
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AM J HUM GENET. 2016;99(3):711-9.

Pathogenesis of minimal change nephrotic Syndrome: an immunological concept
Kim S, Park S, Han K, Kronbichler A, Saleem M, Oh J, Lim B, Shin J
KOREAN J PEDIATR. 2016;59(5):205-11.

Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation
Kobbe R, Kolster M, Fuchs S, Schulze-Sturm U, Jenderny J, Kochhan L, Staab J, Tolosa E, Grimbacher B, Meyer T
GENE. 2016;586(2):234-8.

Dolutegravir in breast milk and maternal and infant plasma during breastfeeding
Kobbe R, Schalkwijk S, Dunay G, Eberhard J, Schulze-Sturm U, Hollwitz B, Degen O, Teulen M, Colbers A, Burger D
AIDS. 2016;30(17):2731-2733.

Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development
Koehne T, Markmann S, Schweizer M, Muschol N, Friedrich R, Hagel C, Glatzel M, Kahl-Nieke B, Amling M, Schinke T, Braulke T
BBA-MOL BASIS DIS. 2016;1862(9):1570–1580.

CLN2 Disease (Classic Late Infantile Neuronal Ceroid Lipofuscinosis)
Kohlschütter A, Schulz A
PEDIATR ENDOCRINOL REV. 2016;13 (Suppl 1):682-8.

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy
Kremer L, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann G, Strom T, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack T
AM J HUM GENET. 2016;98:358-362.

Immunologic Changes Implicated in the Pathogenesis of Focal Segmental Glomerulosclerosis
Kronbichler A, Leierer J, Oh J, Meijers B, Shin J
BIOMED RES INT . 2016;2016:2150451.

Focal Segmental Glomerulosclerosis: Genetics, Mechanism, and Therapies
Kronbichler A, Oh J, Meijers B, Shin J
BIOMED RES INT . 2016;2016:9643785.

Real-life effectiveness of canakinumab in cryopyrin-associated periodic syndrome
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RHEUMATOLOGY. 2016;55(4):689-96.

Device Landing Zone Calcification and Its Impact on Post Procedural Paravalvular Leakage after Transcatheter Aortic Valve Implantation with Two Generations of Balloon-expandable Transcatheter Heart Valves
Linder M, Seiffert M, Schofer N, Deuschl F, Schoen G, Schirmer J, Treede H, Blankenberg S, Reichenspurner H, Schaefer U, Conradi L
THORAC CARDIOV SURG. 2016;64(S 01):OP20.

rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk
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SCI REP-UK. 2016;6:36874.

Volumetric Description of Brain Atrophy in Neuronal Ceroid Lipofuscinosis 2: Supratentorial Gray Matter Shows Uniform Disease Progression
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AM J NEURORADIOL. 2016;37(10):1938 – 43.

Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
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J PEDIATR ENDOCRINOL METAB. 2016;29(9):1083-8.

SY 13-3 DISTRIBUTION OF 24-H AMBULATORY BLOOD PRESSURE IN CHILDREN
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J HYPERTENS. 2016;34 Suppl 1 - ISH 2016 Abstract Book:e368.

Genetic Risk Score Mendelian Randomization Shows that Obesity Measured as Body Mass Index, but not Waist:Hip Ratio, Is Causal for Endometrial Cancer
Painter J, O'Mara T, Marquart L, Webb P, Attia J, Medland S, Cheng T, Dennis J, Holliday E, McEvoy M, Scott R, Ahmed S, Healey C, Shah M, Gorman M, Martin L, Hodgson S, Ekici A, Fasching P, Hein A, Rübner M, Czene K, Darabi H, Hall P, Li J, Dörk T, Dürst M, Hillemanns P, Runnebaum I, Amant F, Annibali D, Depreeuw J, Lambrechts D, Neven P, Cunningham J, Dowdy S, Goode E, Fridley B, Winham S, Njølstad T, Salvesen H, Trovik J, Werner H, Ashton K, Otton G, Proietto A, Mints M, Tham E, Bolla M, Michailidou K, Wang Q, Tyrer J, Hopper J, Peto J, Swerdlow A, Burwinkel B, Brenner H, Meindl A, Brauch H, Lindblom A, Chang-Claude J, Couch F, Giles G, Kristensen V, Cox A, Pharoah P, Tomlinson I, Dunning A, Easton D, Thompson D, Spurdle A
CANCER EPIDEM BIOMAR. 2016;25(11):1503-1510.

Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration
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Empfehlungen zur infektiologischen Versorgung von Flüchtlingen im Kindes- und Jugendalter in Deutschland: Stellungnahme der Deutschen Gesellschaft für Pädiatrische Infektiologie, der Gesellschaft für Tropenpädiatrie und Internationale Kindergesundheit und des Berufsverbandes der Kinder- und Jugendärzte
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INTERNIST. 2016;57(5):416-33.

Surgical complications after peritoneal dialysis catheter implantation depend on children's weight
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J PEDIATR SURG. 2016;51(8):1317-20.

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome
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BLOOD. 2016;128(2):227-38.

A summary of molecular genetic findings in fructose-1,6-bisphosphatase deficiency with a focus on a common long-range deletion and the role of MLPA analysis
Santer R, du Moulin M, Shahinyan T, Vater I, Maier E, Muntau A, Steinmann B
ORPHANET J RARE DIS. 2016;11:44.

Phenylketonuria: Direct and indirect effects of phenylalanine
Schlegel G, Scholz R, Ullrich K, Santer R, Rune G
EXP NEUROL. 2016;281:28-36.

Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation
Schmidt M, Breyer S, Löbel U, Yarar S, Stücker R, Ullrich K, Müller I, Muschol N
ORPHANET J RARE DIS. 2016;11(1):93.

Skin conductance in neonates suffering from abstinence syndrome and unexposed newborns
Schubach N, Mehler K, Roth B, Korsch E, Laux R, Singer D, von der Wense A, Treszl A, Hünseler C
EUR J PEDIATR. 2016;175(6):859-68.

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
Sentner C, Hoogeveen I, Weinstein D, Santer R, Murphy E, McKiernan P, Steuerwald U, Beauchamp N, Taybert J, Laforêt P, Petit F, Hubert A, Labrune P, Smit G, Derks T
J INHERIT METAB DIS. 2016;39(5):697-704.

De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
Shashi V, Pena L, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin H, Cho M, Stong N, Hickey S, Shuss C, , Freemark M, Bellet J, Keels M, Bonner M, El-Dairi M, Butler M, Kranz P, Stumpel C, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkilä S, Pietilainen O, Aarno P, Kurki M, Hoischen A, Need A, Goldstein D, Kortüm F
AM J HUM GENET. 2016;99(4):991-999.

Perinatale Asphyxie - ein gleitendes Kontinuum.
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PALB2, CHEK2 and ATM rare variants and cancer risk
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Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency
Stindt J, Kluge S, Dröge C, Keitel V, Stross C, Baumann U, Brinkert F, Dhawan A, Engelmann G, Ganschow R, Gerner P, Grabhorn E, Knisely A, Noli K, Pukite I, Shepherd R, Ueno T, Schmitt L, Wiek C, Hanenberg H, Häussinger D, Kubitz R
HEPATOLOGY. 2016;63(2):524-37.

Transcriptomic and metabolic analyses reveal salvage pathways in creatine-deficient AGAT(-/-) mice
Stockebrand M, Nejad A, Neu A, Kharbanda K, Sauter K, Schillemeit S, Isbrandt D, Choe C
AMINO ACIDS. 2016;48(8):2025-39.

Impaired phosphorylation of JAK2-STAT5b signaling in fibroblasts from uremic children
Ugarte F, Irarrazabal C, Oh J, Dettmar A, Ceballos M, Rojo A, Ibacache M, Suazo C, Lozano M, Delgado I, Cavada G, Azocar M, Delucchi A, Cano F
PEDIATR NEPHROL. 2016;31(6):965-74.

Nephrin Contributes to Insulin Secretion and Affects Mammalian Target of Rapamycin Signaling Independently of Insulin Receptor
Villarreal R, Mitrofanova A, Maiguel D, Morales X, Jeon J, Grahammer F, Leibiger I, Guzman J, Fachado A, Yoo T, Busher Katin A, Gellermann J, Merscher S, Burke G, Berggren P, Oh J, Huber T, Fornoni A
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Langzeitverlauf nach STEC-HUS Epidemie (2011) assoziiert mit Shiga-Toxin produzierenden E.coli O104:H4 in Deutschland: erste Ergebnisse
Aulbert W, Loos S, Kranz B, Konrad M, Wigger M, Staude H, Krause M, Müller D, Lemke J, Beringer O, Kropp F, Haffner D, Pape L, Ahlenstiel-Grunow T, Hoppe B, Oh J, Kemper M
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Phenotyping heterozygous carriers of juvenile neuronal ceroid lipofuscinosis with CLN3 mutations
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GRAEF ARCH CLIN EXP. 2015;253(8):1245-1250.

Mannose 6-phosphate-independent Lysosomal Sorting of LIMP-2.
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TRAFFIC. 2015;16(10):1127-1136.

Successful detoxification and liver transplantation in a severe poisoning with a chemical wood preservative containing chromium, copper, and arsenic
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Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.
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POLR3A and POLR3B Mutations in Unclassified Hypomyelination
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NEUROPEDIATRICS. 2015;46(3):221-7.

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
Chien Y, Abdenur J, Baronio F, Bannick A, Corrales F, Couce M, Donner M, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu W, James P, Kim S, Korman S, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson W, Wortmann S, Yamamoto S, Pao M, Blom H
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Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria
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J MED GENET. 2015;52(3):175-185.

Mechanische Beatmung
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An instructional video enhanced bag-mask ventilation quality during simulated newborn resuscitation
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ACTA PAEDIATR. 2015;104(1):E20-E26.

Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex
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Pathogenese und Therapie des steroidsensiblen (minimal change) nephrotischen Syndroms
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Päd Praxis. 2015;83(3):455-466.

Forensische Pädopathologie: Akzidentelle Vergiftung durch Inhalation und Exposition gegenüber CO-haltigem Shisha-Rauch.
Dietz E, Kappus S, Ulrich M, Grabhorn E, Püschel K
päd Praktische Pädiatrie. 2015;21(5):288-291.

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway
Di Fruscio G, Schulz A, De Cegli R, Savarese M, Mutarelli M, Parenti G, Banfi S, Braulke T, Nigro V, Ballabio A
AUTOPHAGY. 2015;11(6):928-38.

Markers of bone metabolism are affected by renal function and growth hormone therapy in children with chronic kidney disease
Doyon A, Fischer D, Bayazit A, Canpolat N, Duzova A, Sözeri B, Bacchetta J, Balat A, Büscher A, Candan C, Cakar N, Donmez O, Dusek J, Heckel M, Klaus G, Mir S, Özcelik G, Sever L, Shroff R, Vidal E, Wühl E, Gondan M, Melk A, Querfeld U, Haffner D, Schaefer F
PLOS ONE. 2015;10(2):Art. e0113482.

A Case of a Bilateral Cicatricial Upper Eyelid Entropion After Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type I
Dulz S, Wagenfeld L, Richard G, Schrum J, Muschol N, Keserü M
Ophthal Plast Reconstr Surg. 2015.

Depressed calcium cycling contributes to lower ischemia tolerance in hearts of estrogen-deficient rats
Dunay G, Paragi P, Sára L, Ács N, Balázs B, Ágoston V, Répás C, Ivanics T, Miklós Z
MENOPAUSE. 2015;22(7):773-82.

A novel mutation within the lactase gene (LCT): the first report of congenital lactase deficiency diagnosed in Central Europe
Fazeli W, Kaczmarek S, Kirschstein M, Santer R
BMC GASTROENTEROL. 2015;15:Art. 90.

Persistierende pulmonale Hypertonie des Neugeborenen und chronisch progressive pulmonale Hypertonie im ersten Lebensjahr
Giagnorio R, Deindl P, Brinkmann E, Ehrenberg K, Jonigk D, Hansmann G
Kinder Jugendmed. 2015;15(05):362-373.

Preoperative anemia is associated with adverse outcome in patients with urothelial carcinoma of the bladder following radical cystectomy
Gierth M, Mayr R, Aziz A, Krieger S, Wullich B, Pycha A, Lodde M, Salvadori U, Bründl J, Fritsche H, Hofstädter F, Pawlik M, Otto W, May M, Burger M, Denzinger S
J CANCER RES CLIN. 2015;141(10):1819-26.

Angeborene Herzfehler – Hypoplastisches Linksherzsyndrom (HLHS)
Gottschalk U, Diemert A, Sachweh J, Singer D, Hecher K
Z GEBURTSH NEONATOL . 2015;219(3):113-7.

Long-Term Clinical Relevance of De Novo Donor-Specific Antibodies After Pediatric Liver Transplantation
Grabhorn E, Binder T, Obrecht D, Brinkert F, Lehnhardt A, Herden U, Peine S, Nashan B, Ganschow R, Briem-Richter A
TRANSPLANTATION. 2015;99(9):1876-1881.

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity
Günther C, Kind B, Reijns M, Berndt N, Martinez-Bueno M, Wolf C, Tüngler V, Chara O, Lee Y, Hübner N, Bicknell L, Blum S, Krug C, Schmidt F, Kretschmer S, Koss S, Astell K, Ramantani G, Bauerfeind A, Morris D, Cunninghame Graham D, Bubeck D, Leitch A, Ralston S, Blackburn E, Gahr M, Witte T, Vyse T, Melchers I, Mangold E, Nöthen M, Aringer M, Kuhn A, Lüthke K, Unger L, Bley A, Lorenzi A, Isaacs J, Alexopoulou D, Conrad K, Dahl A, Roers A, Alarcon-Riquelme M, Jackson A, Lee-Kirsch M
J CLIN INVEST. 2015;125(1):413-424.

Outcome of patients with classical infantile pompe disease receiving enzyme replacement therapy in Germany
Hahn A, Praetorius S, Karabul N, Dießel J, Schmidt D, Motz R, Haase C, Baethmann M, Hennermann J, Smitka M, Santer R, Muschol N, Meyer A, Marquardt T, Huemer M, Thiels C, Rohrbach M, Seyfullah G, Mengel E
JIMD reports. 2015;20:65-75.

Very low birth-weight as a risk factor for postpartum depression four to six weeks postbirth in mothers and fathers: Cross-sectional results from a controlled multicentre cohort study.
Helle N, Barkmann C, Bartz-Seel J, Diehl T, Ehrhardt S, Hendel A, Nestoriuc Y, Schulte-Markwort M, Dr. von der Wense A, Bindt C
J AFFECT DISORDERS. 2015;180:154-161.

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment
Hempel M, Cremer K, Ockeloen C, Lichtenbelt K, Herkert J, Denecke J, Haack T, Zink A, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom T, van Gassen K, Kleefstra T, Kubisch C, Engels H, Lessel D
AM J HUM GENET. 2015;97(3):493-500.

Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial
Hendriksz C, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores G, Lau H, Al-Sayed M, Raiman J, Yang K, Mealiffe M, Haller C
MOL GENET METAB. 2015;114(2):178-85.

Spezifische Symptomkombination der chronischen Quecksilberintoxikation: Arterielle Hypertension, Entwicklungsregression und Automutilation
Hermann K, Varwig-Janßen D, Budnik L, Nordholt G, Reinshagen K, Oh J, Santer R, Mühlhausen C
MONATSSCHR KINDERH. 2015;163(6):570-574.

Serum Shiga toxin 2 values in patients during acute phase of diarrhoea-associated haemolytic uraemic syndrome
He X, Quiñones B, Loo M, Loos S, Scavia G, Brigotti M, Levtchenko E, Monnens L
ACTA PAEDIATR. 2015;104(12):e564-8.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2013/2014
Hinkelbein J, Braunecker S, Singer D, Trentzsch H, Thiele H, Böhm L, Bernhard M, Böttiger B
Notfallmedizin up2date. 2015;10(1):73-96.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2014/2015
Hinkelbein J, Singer D, Trentzsch H, Braunecker S, Böhm L, Bernhard M, Cirillo F, Thiele H, Böttiger B
Notfallmedizin up2date. 2015;10(04):353-368.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2014/2015: Teil 2: Traumatologie, pädiatrische Notfälle
Hinkelbein J, Singer D, Trentzsch H, Braunecker S, Böhm L, Bernhard M, Cirillo F, Thiele H, Böttiger B
Notfallmedizin up2date. 2015;10(04):369-384.

Hippocampal synaptic connectivity in phenylketonuria
Horling K, Schlegel G, Schulz S, Vierk R, Ullrich K, Santer R, Rune G
HUM MOL GENET. 2015;4(24):1007-1018.

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data
Huemer M, Bürer C, Ješina P, Kožich V, Landolt M, Suormala T, Fowler B, Augoustides-Savvopoulou P, Blair E, Brennerova K, Broomfield A, De Meirleir L, Gökcay G, Hennermann J, Jardine P, Koch J, Lorenzl S, Lotz-Havla A, Noss J, Parini R, Peters H, Plecko B, Ramos F, Schlune A, Tsiakas K, Zerjav Tansek M, Baumgartner M
J INHERIT METAB DIS. 2015;38(5):957-967.

Sustained Neural Stem Cell-Based Intraocular Delivery of CNTF Attenuates Photoreceptor Loss in the nclf Mouse Model of Neuronal Ceroid Lipofuscinosis
Jankowiak W, Kruszewski K, Flachsbarth K, Skevas C, Richard G, Rüther K, Braulke T, Bartsch U
PLOS ONE. 2015;10(5):e0127204.

Konnataler Morbus Basedow mit begleitender konjugierter Hyperbilirubinämie
Kabisch S, Wolf M, Akkurt I, Singer D
Päd Praxis. 2015;84(2):191-195.

Complement Interactions with Blood Cells, Endothelial Cells and Microvesicles in Thrombotic and Inflammatory Conditions
Karpman D, Ståhl A, Arvidsson I, Johansson K, Loos S, Tati R, Békássy Z, Kristoffersson A, Mossberg M, Kahn R
ADV EXP MED BIOL. 2015;865:19-42.

Response to cyclosporine in steroid-resistant nephrotic Syndrome: discontinuation is possible
Klaassen I, Özgören B, Sadowski C, Möller K, Van Husen M, Lehnhardt A, Timmermann K, Freudenberg F, Helmchen U, Oh J, Kemper M
PEDIATR NEPHROL. 2015;30(9):1477-1483.

Risk of Rotavirus Vaccination for Children with SCID
Klinkenberg D, Blohm M, Hoehne M, Mas Marques A, Malecki M, Schildgen V, Schneppenheim R, Müller I, Schildgen O, Kobbe R
PEDIATR INFECT DIS J. 2015;34(1):114-5.

Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control
Klünder S, Heeren J, Markmann S, Santer R, Braulke T, Pohl S
J LIPID RES. 2015;56(8):1625-32.

Extracellular Vesicles from MSC Modulate the Immune Response to Renal Allografts in a MHC Disparate Rat Model
Koch M, Lemke A, Lange C
Stem Cells Int. 2015;2015:486141.

Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene
Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C, Kohlschütter A, Löbel U, Horvath R, Kleinle S, Benet-Pagès A, Abicht A
MOL CELL PROBES. 2015;29(5):319-322.

Ethical issues with artificial nutrition of children with degenerative brain diseases
Kohlschütter A, Riga C, Crespo D, Torres J, Penchaszadeh V, Schulz A
BBA-MOL BASIS DIS. 2015;1852(7):1253-1256.

Reprint of "Ethical issues with artificial nutrition of children with degenerative brain diseases"
Kohlschütter A, Riga C, Crespo D, Torres J, Penchaszadeh V, Schulz A
BBA-MOL BASIS DIS. 2015;1852(10 Pt B):2312-5.

Demenzerkrankungen bei Kindern und Jugendlichen
Kohlschütter A, Schulz A, Bley A, Nickel M, Richterich A
Päd Praxis. 2015;83:561-570.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Kölker S, Cazorla A, Valayannopoulos V, Lund A, Burlina A, Sykut-Cegielska J, Wijburg F, Teles E, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux J, Avram P, Baumgartner M, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont E, Couce M, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny H, Ortez C, Peña-Quintana L, Ramadža D, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar M, Thompson N, Vara R, Pinera I, Walter J, Williams M, Burgard P
J INHERIT METAB DIS. 2015;38(6):1041-1057.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Kölker S, Valayannopoulos V, Burlina A, Sykut-Cegielska J, Wijburg F, Teles E, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux J, Avram P, Baumgartner M, Blasco-Alonso J, Boy S, Rasmussen M, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce M, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González M, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny H, Ortez C, Pedrón C, Pintos-Morell G, Pena-Quintana L, Ramadža D, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar M, Thompson N, Vara R, Pinera I, Walter J, Williams M, Lund A, Cazorla A
J INHERIT METAB DIS. 2015;38(6):1059-1074.

Impaired bone remodeling and its correction by combination therapy in a mouse model of mucopolysaccharidosis-I
Kühn S, Koehne T, Cornils K, Markmann S, Riedel C, Pestka J, Schweizer M, Baldauf C, Yorgan T, Krause M, Keller J, Neven M, Breyer S, Stücker R, Muschol N, Busse B, Braulke T, Fehse B, Amling M, Schinke T
HUM MOL GENET. 2015;24(24):7075-7086.

8p deletion is strongly linked to poor prognosis in breast cancer
Lebok P, Mittenzwei A, Kluth M, Özden C, Taskin B, Hussein K, Möller K, Hartmann A, Lebeau A, Witzel I, Mahner S, Wölber L, Jänicke F, Geist S, Paluchowski P, Wilke C, Heilenkötter U, Simon R, Sauter G, Terracciano L, Krech R, von der Assen A, Müller V, Burandt E
CANCER BIOL THER. 2015;16(7):1080-7.

Clinical and Molecular Characterization of Patients with Heterozygous Mutations in Wilms Tumor Suppressor Gene 1
Lehnhardt A, Karnatz N, Ahlenstiel-Grunow T, Benz K, Benz M, Budde K, Büscher A, Fehr T, Feldkötter M, Graf N, Höcker B, Jungraithmayr T, Klaus G, Koehler B, Konrad M, Kranz B, Montoya C, Müller D, Neuhaus T, Oh J, Pape L, Pohl M, Royer-Pokora B, Querfeld U, Schneppenheim R, Staude H, Spartà G, Timmermann K, Wilkening F, Wygoda S, Bergmann C, Kemper M
CLIN J AM SOC NEPHRO. 2015;10(5):825-831.

High B-cell activating factor is not associated with worse 3-year graft outcome in blood group-incompatible kidney transplantation with rituximab induction
Lehnhardt A, Strecker M, Eiermann T, Marget M, Thaiss F, Nashan B, Koch M
CLIN TRANSPLANT. 2015.

Rat renal transplant model for mixed acute humoral and cellular rejection: Weak correlation of serum cytokines/chemokines with intragraft changes
Lemke A, Noriega M, Röske A, Kemper M, Nashan B, Falk C, Koch M
TRANSPL IMMUNOL. 2015;33(2):95-102.

The challenges of managing coexistent disorders with phenylketonuria: 30 cases
MacDonald A, Ahring K, Almeida M, Belanger-Quintana A, Blau N, Burlina A, Cleary M, Coskum T, Dokoupil K, Evans S, Feillet F, Giżewska M, Gokmen Ozel H, Lotz-Havla A, Kamieńska E, Maillot F, Lammardo A, Muntau A, Puchwein-Schwepcke A, Robert M, Rocha J, Santra S, Skeath R, Strączek K, Trefz F, van Dam E, van Rijn M, van Spronsen F, Vijay S
MOL GENET METAB. 2015;116(4):242-51.

Treatment during a vulnerable developmental period rescues a genetic epilepsy
Marguet S, Le-Schulte V, Merseburg A, Neu A, Eichler R, Jakovcevski I, Ivanov A, Hanganu-Opatz I, Bernard C, Morellini F, Isbrandt D
NAT MED. 2015;21(12):1436-44.

Lrp1/LDL receptor play critical roles in mannose 6-phosphate-independent lysosomal enzyme targeting
Markmann S, Thelen M, Cornils K, Schweizer M, Brocke-Ahmadinejad N, Willnow T, Heeren J, Gieselmann V, Braulke T, Kollmann K
TRAFFIC. 2015.

Phenotypic and molecular insights into CASK-related disorders in males
Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders C, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel C, Van Maldergem L, Kutsche K
ORPHANET J RARE DIS. 2015;10(1):44.

Chronische Krankheit in der Familie
Morgenstern L, Grolle B, Johannsen J, Denecke J, Bindt C, Wiegand-Grefe S
2015.

Lebensqualität von chronisch erkrankten Kindern und ihren Familien
Morgenstern L, Grolle B, Johannsen J, Denecke J, Bindt C, Wiegand-Grefe S
2015.

Lebensqualität von langzeitbeatmeten Kindern und ihren Familien
Morgenstern L, Grolle B, Johannsen J, Denecke J, Bindt C, Wiegand-Grefe S
2015.

Kurzlehrbuch Pädiatrie
Muntau A
2015. Kurzlehrbuch Pädiatrie. 1. Aufl. München: Urban & Fischer Verlag/Elsevier GmbH, 1-479.

Near-normal values of extravascular lung water in children
Nusmeier A, Cecchetti C, Blohm M, Lehman R, van der Hoeven J, Lemson J
PEDIATR CRIT CARE ME. 2015;16(2):E28-E33.

Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions
Otomo T, Schweizer M, Kollmann K, Schumacher V, Muschol N, Tolosa E, Mittrücker H, Braulke T
J CELL BIOL. 2015;208(2):171-80.

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation
Park J, Hogrebe M, Grüneberg M, DuChesne I, von der Heiden A, Reunert J, Schlingmann K, Boycott K, Beaulieu C, Mhanni A, Innes A, Hörtnagel K, Biskup S, Gleixner E, Kurlemann G, Fiedler B, Omran H, Rutsch F, Wada Y, Tsiakas K, Santer R, Nebert D, Rust S, Marquardt T
AM J HUM GENET. 2015;97(6):894-903.

Biosynthesis, targeting, and processing of lysosomal Proteins: pulse-chase labeling and immune precipitation
Pohl S, Hasilik A
METHODS CELL BIOL. 2015;126:63-83.

Brainstem disconnection: two additional patients and expansion of the phenotype
Poretti A, Denecke J, Miller D, Schiffmann H, Buhk J, Grange D, Doherty D, Boltshauser E
NEUROPEDIATRICS. 2015;46(2):139-44.

Quantification of mevalonate-5-phosphate using UPLC-MS/MS for determination of mevalonate kinase activity
Reitzle L, Maier B, Stojanov S, Teupser D, Muntau A, Vogeser M, Gersting S
CLIN BIOCHEM. 2015;48(12):781-7.

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome
Sadowski C, Lovric S, Ashraf S, Pabst W, Gee H, Kohl S, Engelmann S, Vega-Warner V, Fang H, Halbritter J, Somers M, Tan W, Shril S, Fessi I, Lifton R, Bockenhauer D, El-Desoky S, Kari J, Zenker M, Kemper M, Mueller D, Fathy H, Soliman N, Hildebrandt F
J AM SOC NEPHROL. 2015;26(6):1279-1289 .

A novel mechanism of bacterial toxin transfer within host blood cell-derived microvesicles
Ståhl A, Arvidsson I, Johansson K, Chromek M, Rebetz J, Loos S, Kristoffersson A, Békássy Z, Mörgelin M, Karpman D
PLOS PATHOG. 2015;11(2):e1004619.

Homoarginine supplementation improves blood glucose in diet-induced obese mice
Stockebrand M, Hornig S, Neu A, Atzler D, Cordts K, Böger R, Isbrandt D, Schwedhelm E, Choe C
AMINO ACIDS. 2015;47(9):1921-9.

Spectrum of Steroid-Resistant and Congenital Nephrotic Syndrome in Children: The PodoNet Registry Cohort
Trautmann A, Bodria M, Ozaltin F, Gheisari A, Melk A, Azocar M, Anarat A, Caliskan S, Emma F, Gellermann J, Oh J, Baskin E, Ksiazek J, Remuzzi G, Erdogan O, Akman S, Dusek J, Davitaia T, Özkaya O, Papachristou F, Firszt-Adamczyk A, Urasinski T, Testa S, Krmar R, Hyla-Klekot L, Pasini A, Özcakar Z, Sallay P, Cakar N, Galanti M, Terzic J, Aoun B, Caldas Afonso A, Szymanik-Grzelak H, Lipska B, Schnaidt S, Schaefer F
CLIN J AM SOC NEPHRO. 2015;10(4):592-600.

Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia: A semi-mechanistically-based, nonlinear mixed-effect modeling
Trefz F, Lichtenberger O, Blau N, Muntau A, Feillet F, Bélanger-Quintana A, van Spronsen F, Munafo A
MOL GENET METAB. 2015;114(4):564-9.

The Kuvan(®) Adult Maternal Paediatric European Registry (KAMPER) Multinational Observational Study: Baseline and 1-Year Data in Phenylketonuria Patients Responsive to Sapropterin
Trefz F, Muntau A, Lagler F, Moreau F, Alm J, Burlina A, Rutsch F, Bélanger-Quintana A, Feillet F
JIMD reports. 2015;23:35-43.

Management of adult patients with phenylketonuria: survey results from 24 countries
Trefz F, van Spronsen F, MacDonald A, Feillet F, Muntau A, Belanger-Quintana A, Burlina A, Demirkol M, Giovannini M, Gasteyger C
EUR J PEDIATR. 2015;174(1):119-127.

In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11
Varga R, Khundadze M, Damme M, Nietzsche S, Hoffmann B, Stauber T, Koch N, Hennings C, Franzka P, Huebner A, Kessels M, Biskup C, Jentsch T, Qualmann B, Braulke T, Kurth I, Beetz C, Hübner C
PLOS GENET. 2015;11 (8):e1005454; 1-20.

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site
Velho R, De Pace R, Klünder S, Sperb-Ludwig F, Lourenço C, Schwartz I, Braulke T, Pohl S
HUM MOL GENET. 2015;24(12):3497–3505.

Bispectral index and lower margin amplitude of the amplitude-integrated electroencephalogram in neonates
Werther T, Olischar M, Giordano V, Czaba C, Waldhoer T, Berger A, Pollak A, Deindl P
NEONATOLOGY. 2015;107(1):34-41.

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome
Wortmann S, van Hasselt P, Barić I, Burlina A, Darin N, Hörster F, Coker M, Ucar S, Krumina Z, Naess K, Ngu L, Pronicka E, Riordan G, Santer R, Wassmer E, Zschocke J, Schiff M, de Meirleir L, Alowain M, Smeitink J, Morava E, Kozicz T, Wevers R, Wolf N, Willemsen M
NEUROPEDIATRICS. 2015;46(2):98-103.

CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder
Wortmann S, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack T, Gersting S, Muntau A, Rakovic A, Renkema G, Rodenburg R, Strom T, Meitinger T, Rubio-Gozalbo M, Chrusciel E, Distelmaier F, Golzio C, Jansen J, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink J, Vaz F, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen M, de Brouwer A, Prokisch H, Katsanis N, Wevers R
AM J HUM GENET. 2015;96(2):245-57.

Homozygosity for a partial deletion of apoprotein A-V signal peptide results in intracellular missorting of the protein and chylomicronemia in a breast-fed infant
Albers K, Schlein C, Wenner K, Lohse P, Bartelt A, Heeren J, Santer R, Merkel M
ATHEROSCLEROSIS. 2014;233(1):97-103.

Long survival in Leigh Syndrome: new cases and review of literature
Aulbert W, Weigt-Usinger K, Thiels C, Köhler C, Vorgerd M, Schreiner A, Hoffjan S, Rothoeft T, Wortmann S, Heyer C, Podskarbi T, Lücke T
NEUROPEDIATRICS. 2014;45(6):346-53.

An interactive network of elastase, secretases, and PAR-2 protein regulates CXCR1 receptor surface expression on neutrophils
Bakele M, Lotz-Havla A, Jakowetz A, Carevic M, Marcos V, Muntau A, Gersting S, Hartl D
J BIOL CHEM. 2014;289(30):20516-25.

CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals
Barvencik F, Kurth I, Koehne T, Stauber T, Zustin J, Tsiakas K, Ludwig C, Beil F, Pestka J, Hahn M, Santer R, Supanchart C, Kornak U, Del Fattore A, Jentsch T, Teti A, Schulz A, Schinke T, Amling M
J BONE MINER RES. 2014;29(4):982-91.

Neurological involvement in children with E. coli O104:H4-induced hemolytic uremic syndrome
Bauer A, Loos S, Wehrmann C, Horstmann D, Donnerstag F, Lemke J, Hillebrand G, Löbel U, Pape L, Haffner D, Bindt C, Ahlenstiel T, Melk A, Lehnhardt A, Kemper M, Oh J, Hartmann H
PEDIATR NEPHROL. 2014;29(9):1607-1615.

Alterations in the Ubiquitin Proteasome System in Persistent but Not Reversible Proteinuric Diseases
Beeken M, Lindenmeyer M, Blattner S, Radón V, Oh J, Meyer T, Hildebrand D, Schlüter H, Reinicke-Vogt A, Knop J, Vivekanandan-Giri A, Münster S, Sachs M, Wiech T, Pennathur S, Cohen C, Kretzler M, Stahl R, Meyer-Schwesinger C
J AM SOC NEPHROL. 2014;25(11):2511-25.

High vaccination rate is crucial
Blohm M, Klinkenberg D
DTSCH ARZTEBL INT. 2014;111(9):150.

Impedance cardiography (electrical velocimetry) and transthoracic echocardiography for non-invasive cardiac output monitoring in pediatric intensive care patients: a prospective single-center observational study
Blohm M, Obrecht D, Hartwich J, Müller G, Kersten J, Weil J, Singer D
CRIT CARE. 2014;18(6):603.

Effect of cerebral circulatory arrest on cerebral near-infrared spectroscopy in pediatric patients
Blohm M, Obrecht D, Hartwich J, Singer D
PEDIATR ANESTH. 2014;24(4):393-9.

Hemophagocytic lymphohistiocytosis in imported pediatric visceral leishmaniasis in a nonendemic area
Bode S, Bogdan C, Beutel K, Behnisch W, Greiner J, Henning S, Jorch N, Jankofsky M, Jakob M, Schmid I, Veelken N, Vraetz T, Janka G, Ehl S, Lehmberg K
J PEDIATR-US. 2014;165(1):147-153.e1.

An anorexic girl with severe peripheral vasospasm
Breuer C, Fisch-Kohl C, Kemper M, Debus E, Atlihan G
J PEDIATR-US. 2014;164(1):201-2.

Co-incident BK and Epstein-Barr virus replication in a 3-year-old immunocompetent boy
Breuer C, Hinsch A, Hiort J, Oh J, Hirsch H, Dalquen P
CLIN NEPHROL. 2014;82(4):278-282.

Organtransplantation bei Patienten mit primärer Hyperoxalurie
Brinkert F, Kemper M
Der Nephrologe. 2014;9:222-227.

Ambient-und Biomonitoring nach Quecksilberintoxikation
Budnik L, Hermann K, Preisser A, Nordholt G, Harth V, Mühlhausen C
2014.

Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis
Cobos P, Steglich C, Santer R, Lukacs Z, Gal A
JIMD reports. 2014.

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease
Damme M, Brandenstein L, Fehr S, Jankowiak W, Bartsch U, Schweizer M, Hermans-Borgmeyer I, Storch S
NEUROBIOL DIS. 2014;65:12-24.

Mice over-expressing human erythropoietin indicate that erythropoietin enhances expression of its receptor via up-regulated Gata1 and Tal1
Deindl P, Klar M, Drews D, Cremer M, Gammella E, Gassmann M, Dame C
HAEMATOLOGICA. 2014;99(10):e205-7.

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)
De Pace R, Coutinho M, Nolte F, Haag F, Prata M, Alves S, Braulke T, Pohl S
HUM MUTAT. 2014;35(3):368-76.

Protection of human podocytes from shiga toxin 2-induced phosphorylation of mitogen-activated protein kinases and apoptosis by human serum amyloid P component
Dettmar A, Binder E, Greiner F, Liebau M, Kurschat C, Jungraithmayr T, Saleem M, Schmitt C, Feifel E, Orth-Höller D, Kemper M, Pepys M, Würzner R, Oh J
INFECT IMMUN. 2014;82(5):1872-9.

Geographically weighted regression of land cover determinants of Plasmodium falciparum transmission in the Ashanti Region of Ghana
Ehlkes L, Krefis A, Kreuels B, Krumkamp R, Adjei O, Ayim-Akonor M, Kobbe R, Hahn A, Vinnemeier C, Loag W, Schickhoff U, May J
INT J HEALTH GEOGR. 2014;13:35.

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases
Feillet F, Muntau A, Debray F, Lotz-Havla A, Puchwein-Schwepcke A, Fofou-Caillierez M, van Spronsen F, Trefz F
J INHERIT METAB DIS. 2014;37(5):753-62.

Nectin-4 Mutations Causing Ectodermal Dysplasia with Syndactyly Perturb the Rac1 Pathway and the Kinetics of Adherens Junction Formation
Fortugno P, Josselin E, Tsiakas K, Agolini E, Cestra G, Teson M, Santer R, Castiglia D, Novelli G, Dallapiccola B, Kurth I, Lopez M, Zambruno G, Brancati F
J INVEST DERMATOL. 2014;134(8):2146-2153.

Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: A novel syndrome?
Ganos C, Biskup S, Krüger S, Meyer-Osores A, Hodecker S, Hagel C, Schöls L, Bhatia K, Münchau A
PARKINSONISM RELAT D. 2014;20(3):328-31.

Wärmehaushalt und Temperaturregulation
Gekle M, Singer D
2014. Physiologie. Pape H, Kurtz A, Silbernagl S (Hrsg.). 7. Aufl. Stuttgart: Georg Thieme Verlag , 566-584.

The effect of intra- and postoperative allogenic blood transfusion on patients' survival undergoing radical cystectomy for urothelial carcinoma of the bladder
Gierth M, Aziz A, Fritsche H, Burger M, Otto W, Zeman F, Pawlik M, Hansen E, May M, Denzinger S
WORLD J UROL. 2014;32(6):1447-53.

The Neonatal Pain, Agitation and Sedation Scale reliably detected oversedation but failed to differentiate between other sedation levels
Giordano V, Deindl P, Kuttner S, Waldhör T, Berger A, Olischar M
ACTA PAEDIATR. 2014;103(12):e515-21.

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature
Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R
LIVER TRANSPLANT. 2014;20(4):464-72.

Outcome of liver re-transplantation in children-Impact and special analysis of early re-transplantation
Herden U, Ganschow R, Grabhorn E, Briem-Richter A, Nashan B, Fischer L
PEDIATR TRANSPLANT. 2014;18(4):377-84.

Developments in pediatric liver transplantation since implementation of the new allocation rules in Eurotransplant
Herden U, Grabhorn E, Briem-Richter A, Ganschow R, Nashan B, Fischer L
CLIN TRANSPLANT. 2014;28(9):1061-8.

The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase
Jank J, Maier E, Reiβ D, Haslbeck M, Kemter K, Truger M, Sommerhoff C, Ferdinandusse S, Wanders R, Gersting S, Muntau A
PLOS ONE. 2014;9(4):e93852.

Uni- and crossmodal refractory period effects of event-related potentials provide insights into the development of multisensory processing
Johannsen J, Röder B
FRONT HUM NEUROSCI. 2014;8:552.

Family strain and its relation to psychosocial dysfunction in children and adolescents after liver transplantation
Kaller T, Petersen I, Petermann F, Fischer L, Grabhorn E, Schulz K
PEDIATR TRANSPLANT. 2014;18(8):851-9.

Neonatale Stoffwechselentgleisung: Hyperventilation bei Hyperammoniämie
Kehl T, Tsiakas K, Mühlhausen C, Santer R, C W, Dr. von der Wense A, Singer D
Z GEBURTSH NEONATOL . 2014;218(06):269-270.

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
Kehrer C, Groeschel S, Kustermann-Kuhn B, Bürger F, Köhler W, Kohlschütter A, Bley A, Steinfeld R, Gieselmann V, Krägeloh-Mann I
ORPHANET J RARE DIS. 2014;9:18.

Renal osteodystrophy in children: pathogenesis, diagnosis and treatment
Kemper M, Van Husen M
CURR OPIN PEDIATR. 2014;26(2):180-186.

Epilepsy in Neuronal Ceroid Lipofuscinoses (NCL)
Kohlschütter A, Schulz A, Denecke J
J Pediatr Epilepsy. 2014;3:199-206.

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series
Lampe C, Bosserhoff A, Burton B, Giugliani R, de Souza C, Bittar C, Muschol N, Olson R, Mendelsohn N
J INHERIT METAB DIS. 2014;37(5):823-829.

Myeloperoxidase deficiency ameliorates progression of chronic kidney disease in mice
Lehners A, Lange S, Niemann G, Rosendahl A, Meyer-Schwesinger C, Oh J, Stahl R, Ehmke H, Benndorf R, Klinke A, Baldus S, Wenzel U
AM J PHYSIOL-RENAL. 2014;307(4):F407-17.

Therapie des hämolytisch-urämischen Syndroms
Lemke J, Kemper M, Loos S
Päd Praxis. 2014;83(1):103-111.

Influence of PAH Genotype on Sapropterin Response in PKU: Results of a Single-Center Cohort Study
Leuders S, Wolfgart E, Ott T, du Moulin M, van Teeffelen-Heithoff A, Vogelpohl L, Och U, Marquardt T, Weglage J, Feldmann R, Rutsch F
JIMD reports. 2014;13:101-9.

Genotype-phenotype associations in WT1 glomerulopathy
Lipska B, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F
KIDNEY INT. 2014;85(5):1169-78.

Brain iron quantification by MRI in mitochondrial membrane protein-associated neurodegeneration under iron-chelating therapy
Löbel U, Schweser F, Nickel M, Deistung A, Grosse R, Hagel C, Fiehler J, Schulz A, Hartig M, Reichenbach J, Kohlschütter A, Sedlacik J
Ann Clin Transl Neurol. 2014;1(12):1041-6.

Cardiac arrhythmia induced by genetic silencing of 'funny' (f) channels is rescued by GIRK4 inactivation
Mesirca P, Alig J, Torrente A, Müller J, Marger L, Rollin A, Marquilly C, Vincent A, Dubel S, Bidaud I, Fernandez A, Seniuk A, Engeland B, Singh J, Miquerol L, Ehmke H, Eschenhagen T, Nargeot J, Wickman K, Isbrandt D, Mangoni M
NAT COMMUN. 2014;5:4664.

Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment
Mühlhausen C, Salomons G, Lukacs Z, Struys E, van der Knaap M, Ullrich K, Santer R
J INHERIT METAB DIS. 2014;37(5):775-781.

Angeborene Störungen des Kohlenhydratstoffwechsels und sonstige angeborene Stoffwechselstörungen
Muntau A
2014. Therapie der Krankheiten im Kindes- und Jugendalter. Reinhardt D, Nicolai T, Zimmer K (Hrsg.). 9. Aufl. Berlin Heidelberg: Springer Verlag, 117-132.

Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators
Muntau A, Leandro J, Staudigl M, Mayer F, Gersting S
J INHERIT METAB DIS. 2014;37(4):505-23.

Neurometabolische und Neurodegenerative Krankheiten: Mukopolysaccharidosen (MPS)
Muschol N
2014. Neuropädiatrie: Evidenzbasierte Therapie. Korinthenberg R, Panteliadis C, Hagel C (Hrsg.). 2. Aufl. München: Elsevier Urban & Fischer, .

Unexplained Loss of Vision in a Child:
Nickel M, Löbel U, Holst B, Kammler G, Matschke J, Schulz A, Kohlschütter A
NEUROPEDIATRICS. 2014;45(5):321-4.

CTLA4 Polymorphisms in Minimal Change Nephrotic Syndrome in Children: A Case-Control Study
Ohl K, Eberhardt C, Spink C, Zahn K, Wagner N, Eggermann T, Kemper M, Querfeld U, Hoppe B, Harendza S, Tenbrock K
AM J KIDNEY DIS. 2014;63(6):1074-5.

Hypomyelinating leukodystrophies: translational research progress and prospects
Pouwels P, Vanderver A, Bernard G, Wolf N, Dreha-Kulczewksi S, Deoni S, Bertini E, Kohlschütter A, Richardson W, Ffrench-Constant C, Köhler W, Rowitch D, Barkovich A
ANN NEUROL. 2014;76(1):5-19.

Sexualfunktionen, Schwangerschaft und Geburt
Rieger L, Kämmerer U, Singer D
2014. Physiologie. Pape H, A, S (Hrsg.). 7. Aufl. Stuttgart: Georg Thieme Verlag , 635-670.

Rad50-CARD9 interactions link cytosolic DNA sensing to IL-1β production
Roth S, Rottach A, Lotz-Havla A, Laux V, Muschaweckh A, Gersting S, Muntau A, Hopfner K, Jin L, Vanness K, Petrini J, Drexler I, Leonhardt H, Ruland J
NAT IMMUNOL. 2014;15(6):538-45.

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Rüegger C, Lindner M, Ballhausen D, Baumgartner M, Beblo S, Das A, Gautschi M, Glahn E, Grünert S, Hennermann J, Hochuli M, Huemer M, Karall D, Kölker S, Lachmann R, Lotz-Havla A, Möslinger D, Nuoffer J, Plecko B, Rutsch F, Santer R, Spiekerkoetter U, Staufner C, Stricker T, Wijburg F, Williams M, Burgard P, Häberle J
J INHERIT METAB DIS. 2014;37(1):21-30.

Interaction of glutaric aciduria type 1-related glutaryl-CoA dehydrogenase with mitochondrial matrix proteins
Schmiesing J, Schlüter H, Ullrich K, Braulke T, Mühlhausen C
PLOS ONE. 2014;9(2):e87715.

Quantification of prenatal liver and spleen iron in a sheep model and assessment of iron stores in a human neonate with neonatal hemochromatosis using R2* mapping
Schoennagel B, Remus C, Wedegärtner U, Salzmann I, Grabhorn E, Adam G, Fischer R, Harmatz P, Kooijman H, Yamamura J
MAGN RESON MED. 2014;13(3):167-173.

Lysine glutarylation is a protein posttranslational modification regulated by SIRT5
Tan M, Peng C, Anderson K, Chhoy P, Xie Z, Dai L, Park J, Chen Y, Huang H, Zhang Y, Ro J, Wagner G, Green M, Madsen A, Schmiesing J, Peterson B, Xu G, Ilkayeva O, Muehlbauer M, Braulke T, Mühlhausen C, Backos D, Olsen C, McGuire P, Pletcher S, Lombard D, Hirschey M, Zhao Y
CELL METAB. 2014;19(4):605-17.

Stable isotope dilution microquantification of creatine metabolites in plasma, whole blood and dried blood spots for pharmacological studies in mouse models of creatine deficiency
Tran C, Yazdanpanah M, Kyriakopoulou L, Levandovskiy V, Zahid H, Naufer A, Isbrandt D, Schulze A
CLIN CHIM ACTA. 2014;436:160-8.

Neonatale Erstversorgung - "Atypische Intubation" bei Trachealagenesie
Wolf M, Klaassen I, Reinshagen K, Herrmann J, Singer D
Z GEBURTSH NEONATOL . 2014;218(2):87-8.

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations
Wolf N, Vanderver A, van Spaendonk R, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros J, Pinto P, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap M, Bernard G
NEUROLOGY. 2014;83(21):1898-905.

Transient pseudo-hypertriglyceridemia: a useful biochemical marker of fructose-1,6-bisphosphatase deficiency
Afroze B, Yunus Z, Steinmann B, Santer R
EUR J PEDIATR. 2013;172(9):1249-53.

Hypereosinophiles Syndrom (HES) nach Lebertransplantation
Aulbert W, Breuer C, Oh J, Briem-Richter A, Kobbe R, Ganschow R
2013.

Apoptotic photoreceptor loss and altered expression of lysosomal proteins in the nclf mouse model of neuronal ceroid lipofuscinosis
Bartsch U, Galliciotti G, Jofre G, Jankowiak W, Hagel C, Braulke T
INVEST OPHTH VIS SCI. 2013;54(10):6952-9.

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies
Beck B, Baasner A, Buescher A, Habbig S, Reintjes N, Kemper M, Sikora P, Mache C, Pohl M, Stahl M, Toenshoff B, Pape L, Fehrenbach H, Jacob D, Grohe B, Wolf M, Nürnberg G, Yigit G, Salido E, Hoppe B
EUR J HUM GENET. 2013;21(2):162-72.

Concomitant bilateral adnexal entanglement in a 7-year-old girl with precocious puberty
Boettcher M, Kanellos-Becker I, Akkurt I, Reinshagen K
INT J GYNECOL OBSTET . 2013;123(3):248-9.

Management of anemia in children receiving chronic peritoneal dialysis
Borzych-Duzalka D, Bilginer Y, Ha I, Bak M, Rees L, Cano F, Munarriz R, Chua A, Pesle S, Emre S, Urzykowska A, Quiroz L, Ruscasso J, White C, Pape L, Ramela V, Printza N, Vogel A, Kuzmanovska D, Simkova E, Müller-Wiefel D, Sander A, Warady B, Schaefer F
J AM SOC NEPHROL. 2013;24(4):665-76.

Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parameters.
Boy N, Haege G, Heringer J, Assmann B, Mühlhausen C, Ensenauer R, Maier E, Lücke T, Hoffmann G, Müller E, Burgard P, Kölker S
J INHERIT METAB DIS. 2013;36(3):525-533.

I-cell disease and Pseudo-Hurler Polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization
Braulke T, Raas-Rothschild A, Kornfeld S
2013. The Online Metabolic & Molecular Bases of Inherited Disease,. New York: McGraw-Hill, New York, .

Quantitative t2 measurements in juvenile and late infantile neuronal ceroid lipofuscinosis.
Bravo A, Forkert N, Schulz A, Löbel U, Fiehler J, Ding X, Sedlacik J, Rosenkranz M, Goebell E
CLIN NEURORADIOL. 2013;23(3):189-196.

Liver allograft pathology in healthy pediatric liver transplant recipients
Briem-Richter A, Ganschow R, Sornsakrin M, Brinkert F, Schirmer J, Schäfer H, Grabhorn E
PEDIATR TRANSPLANT. 2013;17(6):543-9.

Cytokine concentrations and regulatory T cells in living donor and deceased donor liver transplant recipients
Briem-Richter A, Leuschner A, Haag F, Grabhorn E, Ganschow R
PEDIATR TRANSPLANT. 2013;17(2):185-90.

Peripheral blood biomarkers for the characterization of alloimmune reactivity after pediatric liver transplantation
Briem-Richter A, Leuschner A, Krieger T, Grabhorn E, Fischer L, Nashan B, Haag F, Ganschow R
PEDIATR TRANSPLANT. 2013;17(8):757-64.

Combined liver-kidney transplantation for children with autosomal recessive polycystic kidney disease (ARPKD): indication and outcome.
Brinkert F, Lehnhardt A, Montoya C, Helmke K, Schäfer H, Fischer L, Nashan B, Bergmann C, Ganschow R, Kemper M
TRANSPL INT. 2013;26(6):640-650.

Pseudotumor cerebri bei einem 8 Monate alten Säugling
Brückner F, Kohl B, Tholen P, Bauer A, Mühlhausen C, Tibussek D, Püst B
Päd Praxis. 2013;80(2):217-221.

Homoarginine levels are regulated by L-arginine:glycine amidinotransferase and affect stroke outcome: results from human and murine studies
Choe C, Atzler D, Wild P, Carter A, Böger R, Ojeda Echevarria F, Simova O, Stockebrand M, Lackner K, Nabuurs C, Marescau B, Streichert T, Müller C, Lüneburg N, De Deyn P, Benndorf R, Baldus S, Gerloff C, Blankenberg S, Heerschap A, Grant P, Magnus T, Zeller T, Isbrandt D, Schwedhelm E
CIRCULATION. 2013;128(13):1451-61.

L-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.
Choe C, Nabuurs C, Stockebrand M, Neu A, Nunes P, Morellini F, Sauter K, Schillemeit S, Hermans-Borgmeyer I, Marescau B, Heerschap A, Isbrandt D
HUM MOL GENET. 2013;22(1):110-123.

Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes
Cleary M, Trefz F, Muntau A, Feillet F, van Spronsen F, Burlina A, Bélanger-Quintana A, Giżewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A
MOL GENET METAB. 2013;110(4):418-23.

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome
Cohn G, Morin I, Whiteman D
EUR J PEDIATR. 2013;172(7):965-70.

Testing for hyperhomocysteinemia in subjects with a history of thromboembolic events using HPLC technique
Denecke J
2013. Haemostasis. 1. Aufl. Springer, 383-386.

Fehlbildungen der Niere und ableitenden Harnwege – Autosomal-rezessive polyzystische Nierenerkrankung (ARPKD)
Diemert A, Klaassen I, Kemper M, Hecher K, Singer D
Z GEBURTSH NEONATOL . 2013;217(2):46-9.

Human factor H-related protein 2 (CFHR2) regulates complement activation
Eberhardt H, Buhlmann D, Hortschansky P, Chen Q, Böhm S, Kemper M, Wallich R, Hartmann A, Hallström T, Zipfel P, Skerka C
PLOS ONE. 2013;8(11):e78617.

Transport of the GlcNAc-1-phosphotransferase α/β-subunit precursor protein to the Golgi apparatus requires a combinatorial sorting motif
Franke M, Braulke T, Storch S
J BIOL CHEM. 2013;288(2):1238-49.

Growing experience with mTOR inhibitors in pediatric solid organ transplantation
Ganschow R, Pape L, Sturm E, Bauer J, Melter M, Gerner P, Hoecker B, Ahlenstiel T, Kemper M, Brinkert F, Sachse M, Tönshoff B
PEDIATR TRANSPLANT. 2013;17(7):694-706.

Successful outcome of severe Amanita phalloides poisoning in children
Grabhorn E, Nielsen D, Hillebrand G, Brinkert F, Herden U, Fischer L, Ganschow R
PEDIATR TRANSPLANT. 2013;17(6):550-5.

A formula to calculate the standard liver volume in children and its application in pediatric liver transplantation
Herden U, Wischhusen F, Heinemann A, Ganschow R, Grabhorn E, Vettorazzi E, Nashan B, Fischer L
TRANSPL INT. 2013;26(12):1217-24.

Transcapsular arterial neovascularization of liver transplants increases the risk of intraoperative bleeding during retransplantation.
Herrmann J, Herden U, Ganschow R, Petersen K, Schmid F, Derlin T, Koops A, Peine S, Sterneck M, Fischer L, Helmke K
TRANSPL INT. 2013;26(4):419-427.

Seltene Fehlbildung der Anogenitalregion – Fetale Enterolithiasis als Vorbote einer Penisagenesie
Hillebrand G, Glosemeyer P, Helmke K, Singer D
Z GEBURTSH NEONATOL . 2013;217:72-73.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2012/2013
Hinkelbein J, Braunecker S, Singer D, Thiele H, Böttiger B
Notfallmedizin up2date. 2013;8:317-335.

Epidemiology and morbidity of Epstein-Barr virus infection in pediatric renal transplant recipients: a multicenter, prospective study
Höcker B, Fickenscher H, Delecluse H, Böhm S, Küsters U, Schnitzler P, Pohl M, John U, Kemper M, Fehrenbach H, Wigger M, Holder M, Schröder M, Billing H, Fichtner A, Feneberg R, Sander A, Köpf-Shakib S, Süsal C, Tönshoff B
CLIN INFECT DIS. 2013;56(1):84-92.

Establishment of the first newborn screening program in the People's Democratic Republic of Laos.
Hoehn T, Lukacs Z, Stehn M, Mayatepek E, Philavanh K, Bounnack S
J TROP PEDIATRICS. 2013;59(2):95-99.

Complement factor H-related protein 1 deficiency and factor H antibodies in pediatric patients with atypical hemolytic uremic syndrome.
Hofer J, Janecke A, Zimmerhackl L, Riedl M, Rosales A, Giner T, Cortina G, Haindl C, Petzelberger B, Pawlik M, Jeller V, Vester U, Gadner B, Van Husen M, Moritz M, Würzner R, Jungraithmayr T, Group G
CLIN J AM SOC NEPHRO. 2013;8(3):407-415.

Mass spectrometric analysis of neutral and anionic N-glycans from a Dictyostelium discoideum model for human congenital disorder of glycosylation CDG IL.
Hykollari A, Balog C, Rendić D, Braulke T, Wilson I, Paschinger K
J PROTEOME RES. 2013;12(3):1173-1187.

Protective effects of the mTOR inhibitor everolimus on cytoskeletal injury in human podocytes are mediated by RhoA signaling
Jeruschke S, Büscher A, Oh J, Saleem M, Hoyer P, Weber S, Nalbant P
PLOS ONE. 2013;8(2):e55980.

The effect of idursulfase on growth in patients with Hunter Syndrome: data from the Hunter Outcome Survey (HOS)
Jones S, Parini R, Harmatz P, Giugliani R, Fang J, Mendelsohn N
MOL GENET METAB. 2013;109(1):41-8.

Cognitive performance in pediatric liver transplant recipients
Kaller T, Langguth N, Petermann F, Ganschow R, Nashan B, Schulz K
AM J TRANSPLANT. 2013;13(11):2956-65.

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study
Keil S, Anjema K, van Spronsen F, Lambruschini N, Burlina A, Bélanger-Quintana A, Couce M, Feillet F, Cerone R, Lotz-Havla A, Muntau A, Bosch A, Meli C, Billette de Villemeur T, Kern I, Riva E, Giovannini M, Damaj L, Leuzzi V, Blau N
PEDIATRICS. 2013;131(6):e1881-8.

Is rituximab effective in childhood nephrotic syndrome? Yes and no
Kemper M, Lehnhardt A, Zawischa A, Oh J
PEDIATR NEPHROL. 2013.

Transmission of glomerular permeability factor soluble urokinase plasminogen activator receptor (suPAR) from a mother to child.
Kemper M, Wei C, Reiser J
AM J KIDNEY DIS. 2013;61(2):352.

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system
Khundadze M, Kollmann K, Koch N, Biskup C, Nietzsche S, Zimmer G, Hennings J, Huebner A, Symmank J, Jahic A, Ilina E, Karle K, Schöls L, Kessels M, Braulke T, Qualmann B, Kurth I, Beetz C, Hübner C
PLOS GENET. 2013;9(12):e1003988.

Isogeneic MSC application in a rat model of acute renal allograft rejection modulates immune response but does not prolong allograft survival
Koch M, Lehnhardt A, Hu X, Brunswig-Spickenheier B, Stolk M, Bröcker V, Noriega M, Seifert M, Lange C
TRANSPL IMMUNOL. 2013;29(1-4):43-50.

Lysosomal leukodystrophies: Krabbe disease and metachromatic leukodystrophy
Kohlschütter A
2013. Handbook of Clinical Neurology. Dulac O, Lassonde M, Sarnat H (Hrsg.). 1. Aufl. 1611-8.

Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II
Kollmann K, Pestka J, Kühn S, Schöne E, Schweizer M, Karkmann K, Otomo T, Catala-Lehnen P, Failla A, Marshall R, Krause M, Santer R, Amling M, Braulke T, Schinke T
EMBO MOL MED. 2013;5(12):1871-86.

Cell biology and function of neuronal ceroid lipofuscinosis-related proteins
Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T
BBA-MOL BASIS DIS. 2013;1832(11):1866-81.

Gender differences in solitary functioning kidney: do they affect renal outcome? Response
Kummer S, Oh J
PEDIATR NEPHROL. 2013.

Genetic screening in adolescents with steroid-resistant nephrotic syndrome
Lipska B, Iatropoulos P, Maranta R, Caridi G, Ozaltin F, Anarat A, Balat A, Gellermann J, Trautmann A, Erdogan O, Saeed B, Emre S, Bogdanovic R, Azocar M, Balasz-Chmielewska I, Benetti E, Caliskan S, Mir S, Melk A, Ertan P, Baskin E, Jardim H, Davitaia T, Wasilewska A, Drozdz D, Szczepanska M, Jankauskiene A, Higuita L, Ardissino G, Ozkaya O, Kuzma-Mroczkowska E, Soylemezoglu O, Ranchin B, Medynska A, Tkaczyk M, Peco-Antic A, Akil I, Jarmolinski T, Firszt-Adamczyk A, Dusek J, Simonetti G, Gok F, Gheissari A, Emma F, Krmar R, Fischbach M, Printza N, Simkova E, Mele C, Ghiggeri G, Schaefer F
KIDNEY INT. 2013;84(1):206-13.

Das Hämolytisch Urämische Syndrom im Kindesalter
Loos S, Oh J, Kemper M
Nieren- und Hochdruckkrankheiten. 2013;42(3):126-133.

Peripartale Kardiomyopathie: Interdisziplinäre Herausforderung
Löser B, Tank S, Hillebrand G, Goldmann B, Diehl W, Biermann D, Schirmer J, Reuter D
ANAESTHESIST. 2013;62(5):343-54.

What are effects of a spaced activation of virtual patients in a pediatric course?
Maier E, Hege I, Muntau A, Huber J, Fischer M
BMC MED EDUC. 2013;13:45.

Spatial memory tasks in rodents: what do they model?
Morellini F
CELL TISSUE RES. 2013;354(1):273-86.

Disturbed energy metabolism and muscular dystrophy caused by pure creatine deficiency are reversible by creatine intake.
Nabuurs C, Choe C, Veltien A, Kan H, van Loon L, Rodenburg R, Matschke J, Wieringa B, Kemp G, Isbrandt D, Heerschap A
J PHYSIOL-LONDON. 2013;591(Pt 2):571-592.

Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria
Nota B, Struys E, Pop A, Jansen E, Fernandez Ojeda M, Kanhai W, Kranendijk M, van Dooren S, Bevova M, Sistermans E, Nieuwint A, Barth M, Ben-Omran T, Hoffmann G, de Lonlay P, McDonald M, Meberg A, Muntau A, Nuoffer J, Parini R, Read M, Renneberg A, Santer R, Strahleck T, van Schaftingen E, van der Knaap M, Jakobs C, Salomons G
AM J HUM GENET. 2013;92(4):627-31.

Characteristic congenital reticular erythema: cutis marmorata telangiectatica congenita
Pleimes M, Göttler S, Weibel L
J PEDIATR-US. 2013;163(2):604-604.e1.

Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies
Preisler N, Lukacs Z, Vinge L, Madsen K, Husu E, Hansen R, Duno M, Andersen H, Laub M, Vissing J
MOL GENET METAB. 2013;110(3):287-9.

Postnatal disruption of the disintegrin/metalloproteinase ADAM10 in brain causes epileptic seizures, learning deficits, altered spine morphology, and defective synaptic functions
Prox J, Bernreuther C, Altmeppen H, Grendel J, Glatzel M, D'Hooge R, Stroobants S, Ahmed T, Balschun D, Willem M, Lammich S, Isbrandt D, Schweizer M, Horré K, De Strooper B, Saftig P
J NEUROSCI. 2013;33(32):12915-28, 12928a.

Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia.
Schild R, Knüppel T, Konrad M, Bergmann C, Trautmann A, Kemper M, Wu K, Yaklichkin S, Wang J, Pestell R, Müller-Wiefel D, Schaefer F, Weber S
NEPHROL DIAL TRANSPL. 2013;28(1):227-232.

Komplexe gastrointestinale Fehlbildung – Kombinierte Ösophagus- und Duodenalatresie
Schmidtke S, Diehl W, Herrmann J, Bergholz R, Singer D
Z GEBURTSH NEONATOL . 2013;217(4):147-8.

Effect of the dialysis fluid buffer on peritoneal membrane function in children
Schmitt C, Nau B, Gemulla G, Bonzel K, Hölttä T, Testa S, Fischbach M, John U, Kemper M, Sander A, Arbeiter K, Schaefer F
CLIN J AM SOC NEPHRO. 2013;8(1):108-115.

NCL Disorders: Frequent Causes of Childhood Dementia
Schulz A, Kohlschütter A
Iran J Child Neurol. 2013;7(1):1-8.

NCL diseases - clinical perspectives
Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R
BBA-MOL BASIS DIS. 2013;1832(11):1801-6.

Ultrastructural analysis of neuronal and non-neuronal lysosomal storage in mucolipidosis type II knock-in mice
Schweizer M, Markmann S, Braulke T, Kollmann K
ULTRASTRUCT PATHOL. 2013;37(5):366-72.

Adenosine receptor antagonists including caffeine alter fetal brain development in mice
Silva C, Métin C, Fazeli W, Machado N, Darmopil S, Launay P, Ghestem A, Nesa M, Bassot E, Szabó E, Baqi Y, Müller C, Tomé A, Ivanov A, Isbrandt D, Zilberter Y, Cunha R, Esclapez M, Bernard C
SCI TRANSL MED. 2013;5(197):197ra104.

Pädiatrische Notfälle
Singer D
2013. Notfallmedizin. Scholz J, Sefrin P, Böttiger B, Dörges V, Wenzel V (Hrsg.). 3.. Aufl. Stuttgart: Georg Thieme Verlag , 359-387.

Physiology and Pathophysiology of Thermoregulation in the Neonate
Singer D
BIOMED ENG-BIOMED TE. 2013.

Differential regulation of AMPK activation in leptin- and creatine-deficient mice
Stockebrand M, Sauter K, Neu A, Isbrandt D, Choe C
FASEB J. 2013;27(10):4147-56.

Acute renal proximal tubule alterations during induced metabolic crises in a mouse model of glutaric aciduria type 1
Thies B, Meyer-Schwesinger C, Lamp J, Schweizer M, Koeller D, Ullrich K, Braulke T, Mühlhausen C
BBA-MOL BASIS DIS. 2013;1832(10):1463-72.

Hereditäre epileptische Enzephalopathie mit Amelogenesis imperfecta Kohlschütter-Tönz-Syndrom (KTZS) – Bericht über einen weiteren, postum erfassten Patienten aus der Zentralschweiz
Tönz O, Steiner B, Schossig A, Zschocke J, Kohlschütter A
Epileptologie. 2013;30:167-174.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
van de Kamp J, Betsalel O, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca M, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer H, Hofstede F, Johnson D, Kant S, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit J, Monteiro J, Munnich A, Muntau A, Nassogne M, Osaka H, Ounap K, Pinard J, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz C, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink M, Pouwels P, Errami A, van der Knaap M, Jakobs C, Mancini G, Salomons G
J MED GENET. 2013;50(7):463-72.

Diagnosis of Pompe disease: muscle biopsy vs blood-based assays
Vissing J, Lukacs Z, Straub V
JAMA NEUROL. 2013;70(7):923-7.

Ungewöhnlicher Haut- und Skelettbefund – Infantile Myofibromatose
Warlitz C, Kobbe R, Helmke K, Höger P, Singer D
Z GEBURTSH NEONATOL . 2013;217(3):112-3.

Diagnosing mucopolysaccharidosis IVA
Wood T, Harvey K, Beck M, Burin M, Chien Y, Church H, D'Almeida V, van Diggelen O, Fietz M, Giugliani R, Harmatz P, Hawley S, Hwu W, Ketteridge D, Lukacs Z, Miller N, Pasquali M, Schenone A, Thompson J, Tylee K, Yu C, Hendriksz C
J INHERIT METAB DIS. 2013;36(2):293-307.

Abatacept in B7-1-positive proteinuric kidney disease
Yu C, Fornoni A, Weins A, Hakroush S, Maiguel D, Sageshima J, Chen L, Ciancio G, Faridi M, Behr D, Campbell K, Chang J, Chen H, Oh J, Faul C, Arnaout M, Fiorina P, Gupta V, Greka A, Burke G, Mundel P
NEW ENGL J MED. 2013;369(25):2416-23.

Glyceroluria and neonatal hemochromatosis.
Barić I, Zibar K, Ćorić M, Santer R, Bonilla S, Bilić K, Buljević A, Benjak V, Fumić K, Whitington P
J PEDIATR GASTR NUTR. 2012;55(4):126-128.

Liver cell transplantation in severe infantile oxalosis--a potential bridging procedure to orthotopic liver transplantation?
Beck B, Habbig S, Dittrich K, Stippel D, Kaul I, Koerber F, Goebel H, Salido E, Kemper M, Meyburg J, Hoppe B
NEPHROL DIAL TRANSPL. 2012;27(7):2984-2989.

Long-term diffusion impairment of cerebral white matter in a degenerative disease of the central and peripheral nervous system: reflection of chronic excitotoxicity?
Blum K, Hagel C, Neuen-Jacob E, Herkenrath P, Fiehler J, Kohlschütter A, Lanfermann H, Ding X
J CHILD NEUROL. 2012;27(2):229-233.

Schmerzmanagement bei Kindern in der Schweiz
Boettcher M, Göttler S
MONATSSCHR KINDERH. 2012;160(9):887-894.

Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment.
Cochat P, Hulton S, Acquaviva C, Danpure C, Daudon M, Mario D, Fargue S, Groothoff J, Harambat J, Hoppe B, Jamieson N, Kemper M, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, Woerden v, Christiaan S, OxalEurope [
NEPHROL DIAL TRANSPL. 2012;27(5):1729-1736.

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
Coelho D, Kim J, Miousse I, Fung S, du Moulin M, Buers I, Suormala T, Burda P, Frapolli M, Stucki M, Nürnberg P, Thiele H, Robenek H, Höhne W, Longo N, Pasquali M, Mengel E, Watkins D, Shoubridge E, Majewski J, Rosenblatt D, Fowler B, Rutsch F, Baumgartner M
NAT GENET. 2012;44(10):1152-5.

Imaging evidence of early brain tissue degeneration in patients with vanishing white matter disease: a multimodal MR study.
Ding X, Bley A, Ohlenbusch A, Kohlschütter A, Fiehler J, Zhu W, Lanfermann H
J MAGN RESON IMAGING. 2012;35(4):926-932.

Urinary proteome analysis to exclude severe vesicoureteral reflux.
Drube J, Schiffer E, Lau E, Petersen C, Kirschstein M, Kemper M, Lichtinghagen R, Ure B, Mischak H, Pape L, Ehrich J
PEDIATRICS. 2012;129(2):356-363.

Approach to the management of slipped capital femoral epiphysis and primary hyperparathyroidism
El Scheich T, Marquard J, Westhoff B, Krauspe R, Schneider A, Cupisti K, Oh J, Meissner T, Mayatepek E, Klee D
J PEDIATR ENDOCRINOL METAB. 2012;25(5-6):407-12.

Bioluminescence resonance energy Transfer: an emerging tool for the detection of protein-protein interaction in living cells
Gersting S, Lotz-Havla A, Muntau A
Methods Mol Biol. 2012;815:253-63.

Glucose transporter-1 (GLUT1) deficiency syndrome
Gramer G, Wolf N, Vater D, Bast T, Santer R, Kamsteeg E, Wevers R, Ebinger F
NEUROPEDIATRICS. 2012;43(3):168-71.

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood.
Gramer G, Wolf N, Vater D, Bast T, Santer R, Kamsteeg E, Wevers R, Ebinger F
NEUROPEDIATRICS. 2012;43(3):168-171.

Propionic acidemia: neonatal versus selective metabolic screening.
Grünert S, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer O, Baumgartner M, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann J, Steinfeld R, Beblo S, Koch H, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Sperl W, Kraus J, Superti-Furga A, Schwab K, Sass J
J INHERIT METAB DIS. 2012;35(1):41-49.

Fanconi-Bickel syndrome
Grünert S, Schwab K, Pohl M, Sass J, Santer R
MOL GENET METAB. 2012;105(3):433-7.

Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
Grünert S, Schwab K, Pohl M, Sass J, Santer R
MOL GENET METAB. 2012;105(3):433-437.

3-methylcrotonyl-CoA carboxylase deficiency
Grünert S, Stucki M, Morscher R, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab K, Wilcken B, Fowler B, Yue W, Baumgartner M
ORPHANET J RARE DIS. 2012;7:31.

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Grünert S, Stucki M, Morscher R, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab K, Wilcken B, Fowler B, Yue W, Baumgartner M
ORPHANET J RARE DIS. 2012;7:31.

Suggested guidelines for the diagnosis and management of urea cycle disorders
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo P, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C
ORPHANET J RARE DIS. 2012;7:32.

Identification of a new fatty acid synthesis-transport machinery at the peroxisomal membrane
Hillebrand M, Gersting S, Lotz-Havla A, Schäfer A, Rosewich H, Valerius O, Muntau A, Gärtner J
J BIOL CHEM. 2012;287(1):210-21.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2011/2012
Hinkelbein J, Bernhard M, Braunecker S, Meixensberger J, Singer D, Thiele H, Böttiger B
Notfallmedizin up2date. 2012;7(4):327-346.

(Val-)Ganciclovir prophylaxis reduces Epstein-Barr virus primary infection in pediatric renal transplantation.
Höcker B, Böhm S, Fickenscher H, Küsters U, Schnitzler P, Pohl M, John U, Kemper M, Fehrenbach H, Wigger M, Holder M, Schröder M, Feneberg R, Köpf-Shakib S, Tönshoff B
TRANSPL INT. 2012;25(7):723-731.

Long-term follow-up after rituximab for steroid-dependent idiopathic nephrotic syndrome.
Kemper M, Gellermann J, Habbig S, Krmar R, Dittrich K, Jungraithmayr T, Pape L, Patzer L, Billing H, Weber L, Pohl M, Rosenthal K, Rosahl A, Müller-Wiefel D, Dötsch J
NEPHROL DIAL TRANSPL. 2012;27(5):1910-1915.

Outbreak of hemolytic uremic syndrome caused by E. coli O104:H4 in Germany: a pediatric perspective.
Kemper M, Markus J
PEDIATR NEPHROL. 2012;27(2):161-164.

Non-enhanced ECG-gated respiratory-triggered 3-D steady-state free-precession MR angiography with slab-selective inversion
Klee D, Lanzman R, Blondin D, Schmitt P, Oh J, Salgin B, Mayatepek E, Antoch G, Schaper J
Pediatric radiology. 2012;42(7):785-90.

Unerwartete Schulprobleme und Wesensveränderung
Kohlschütter A, Bley A, Meyer-Osores A, Hartmann M
Neuropädiatrie in Klinik und Praxis. 2012;11(3):126-127.

Zerebrale Bildgebung bei angeborenen Stoffwechselfehlern - Eine pädiatrische Annäherung
Kohlschütter A, Löbel U
MONATSSCHR KINDERH. 2012;160(8):742-749.

A child with night blindness: preventing serious symptoms of Refsum disease.
Kohlschütter A, Santer R, Lukacs Z, Altenburg C, Kemper M, Rüther K
J CHILD NEUROL. 2012;27(5):654-656.

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Kölker S, Boy S, Heringer J, Müller E, Maier E, Ensenauer R, Mühlhausen C, Schlune A, Greenberg C, Koeller D, Hoffmann G, Haege G, Burgard P
MOL GENET METAB. 2012;107(1-2):72-80.

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.
Kollmann K, Damme M, Markmann S, Morelle W, Schweizer M, Hermans-Borgmeyer I, Röchert A, Pohl S, Lübke T, Michalski J, Käkelä R, Walkley S, Braulke T
BRAIN. 2012;135(Pt 9):2661-2675.

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
Kousi M, Anttila V, Schulz A, Calafato S, Jakkula E, Riesch E, Myllykangas L, Kalimo H, Topçu M, Gökben S, Alehan F, Lemke J, Alber M, Palotie A, Kopra O, Lehesjoki A
J MED GENET. 2012;49(6):391-9.

Mutation analysis in 54 propionic acidemia patients.
Kraus J, Spector E, Venezia S, Estes P, Chiang P, Creadon-Swindell G, Müllerleile S, de Silva L, Barth M, Walter M, Walter K, Meissner T, Lindner M, Ensenauer R, Santer R, Bodamer O, Baumgartner M, Brunner-Krainz M, Karall D, Haase C, Knerr I, Marquardt T, Hennermann J, Steinfeld R, Beblo S, Koch H, Konstantopoulou V, Scholl-Bürgi S, van Teeffelen-Heithoff A, Suormala T, Ugarte M, Sperl W, Superti-Furga A, Schwab K, Grünert S, Sass J
J INHERIT METAB DIS. 2012;35(1):51-63.

The influence of gender and sexual hormones on incidence and outcome of chronic kidney disease.
Kummer S, von Gersdorff G, Kemper M, Oh J
PEDIATR NEPHROL. 2012;27(8):1213-1219.

Elevated serum levels of B-cell activating factor in pediatric renal transplant patients.
Lehnhardt A, Dunst F, Van Husen M, Loos S, Oh J, Eiermann T, Koch M, Kemper M
PEDIATR NEPHROL. 2012;27(8):1389-1395.

Pierson syndrome in an adolescent girl with nephrotic range proteinuria but a normal GFR.
Lehnhardt A, Lama A, Amann K, Matejas V, Zenker M, Kemper M
PEDIATR NEPHROL. 2012;27(5):865-868.

An outbreak of Shiga toxin-producing Escherichia coli O104:H4 hemolytic uremic syndrome in Germany: presentation and short-term outcome in children.
Loos S, Ahlenstiel T, Kranz B, Staude H, Pape L, Härtel C, Vester U, Buchtala L, Benz K, Hoppe B, Beringer O, Krause M, Müller D, Pohl M, Lemke J, Hillebrand G, Kreuzer M, König J, Wigger M, Konrad M, Haffner D, Oh J, Kemper M
CLIN INFECT DIS. 2012;55(6):753-759.

Mannose 6 dephosphorylation of lysosomal proteins mediated by acid phosphatases Acp2 and Acp5.
Makrypidi G, Damme M, Müller-Loennies S, Trusch M, Schmidt B, Schlüter H, Heeren J, Lübke T, Saftig P, Braulke T
MOL CELL BIOL. 2012;32(4):774-782.

High serum adiponectin concentration in children with chronic kidney disease.
Möller K, Dieterman C, Herich L, Klaassen I, Kemper M, Müller-Wiefel D
PEDIATR NEPHROL. 2012;27(2):243-249.

Comorbidities in chronic pediatric peritoneal dialysis patients
Neu A, Sander A, Borzych-Duzalka D, Watson A, Vallés P, Ha I, Patel H, Askenazi D, Balasz-Chmielewska I, Lauronen J, Groothoff J, Feber J, Schaefer F, Warady B, , Kemper M
Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis. 2012;32(4):410-8.

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6
Nitschke Y, Baujat G, Botschen U, Wittkampf T, du Moulin M, Stella J, Le Merrer M, Guest G, Lambot K, Tazarourte-Pinturier M, Chassaing N, Roche O, Feenstra I, Loechner K, Deshpande C, Garber S, Chikarmane R, Steinmann B, Shahinyan T, Martorell L, Davies J, Smith W, Kahler S, McCulloch M, Wraige E, Loidi L, Höhne W, Martin L, Hadj-Rabia S, Terkeltaub R, Rutsch F
AM J HUM GENET. 2012;90(1):25-39.

Minimal change (steroid sensitive) nephrotic syndrome in children: new aspects on pathogenesis and treatment.
Oh J, Kemper M
Minerva Pediatr. 2012;64(2):197-204.

Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients
Ovunc B, Ashraf S, Vega-Warner V, Bockenhauer D, Elshakhs N, Joseph M, Hildebrandt F, , Kemper M
NEPHRON CLIN PRACT. 2012;120(3):c139-46.

A novel mannose 6-phosphate specific antibody fragment for diagnosis of Mucolipidosis type II and III
Pohl S, Braulke T, Müller-Loennies S
2012. Anticarbohydrate antibodies - From molecular basis to clinical application. Springer, Wien: 307-325.

Gesundheitsbezogene Lebensqualität und psychische Gesundheit von kleinwüchsigen Kindern und Jugendlichen
Quitman J, Behncke J, Dörr H, Rolf P, Wüsthof A, Stahnke N, Jakisch B, Partsch C, Nöker M, Kuhnle-Krahl U, Rohenkohl A, Bullinger M
Zeitschrift für Medizinische Psychologie. 2012;31(3):132-139.

Defects in Transport: Mucolipidosis II alpha/beta, mucolipidosis III alpha/beta and mucolipidosis III gamma
Raas-Rothschild A, Pohl S, Braulke T
2012. Lysosomal Storage Disorders: A Practical Guide. WileyBlackwell, London: 121-126.

Multiple Enzyme Deficiencies: Defects in transport: Mucolipidosis II alpha/beta; mucolipidosis III alpha/beta and mucolipidosis III gamma
Raas-Rothschild A, Pohl S, Braulke T
2012. Lysosomal Storage Diseases: A Practical Guide. WileyBlackwell, London: 121-126.

Novel pharmacological chaperones that correct phenylketonuria in mice
Santos-Sierra S, Kirchmair J, Perna A, Reiss D, Kemter K, Röschinger W, Glossmann H, Gersting S, Muntau A, Wolber G, Lagler F
HUM MOL GENET. 2012;21(8):1877-87.

Impact of global economic disparities on practices and outcomes of chronic peritoneal dialysis in children
Schaefer F, Borzych-Duzalka D, Azocar M, Munarriz R, Sever L, Aksu N, Barbosa L, Galan Y, Xu H, Coccia P, Szabo A, Wong W, Salim R, Vidal E, Pottoore S, Warady B, , Kemper M
Peritoneal dialysis international : journal of the International Society for Peritoneal Dialysis. 2012;32(4):399-409.

Exploring the unique N-glycome of the opportunistic human pathogen Acanthamoeba.
Schiller B, Makrypidi G, Razzazi-Fazeli E, Paschinger K, Walochnik J, Wilson I
J BIOL CHEM. 2012;287(52):43191-43204.

Epileptic encephalopathy and amelogenesis imperfecta
Schossig A, Wolf N, Kapferer I, Kohlschütter A, Zschocke J
EUR J MED GENET. 2012;55(5):319-22.

Neuronale Zeroidlipofuszinosen (NCL) - Metabolische Demenzkrankheiten im Kindesalter
Schulz A, Kohlschütter A
MONATSSCHR KINDERH. 2012;160:734-741.

Ertrinkungsunfall eines Kleinkinds im Gartenteich
Singer D
Notfallmedizin up2date. 2012;7:9-13.

[Long-term survival of preterm neonates].
Singer D
BUNDESGESUNDHEITSBLATT. 2012;55(4):568-575.

Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.
Steenhuis P, Froemming J, Reinheckel T, Storch S
Biochim Biophys Acta. 2012;1822(10):1617-1628.

Disruption of the autophagy-lysosome pathway is involved in neuropathology of the nclf mouse model of neuronal ceroid lipofuscinosis.
Thelen M, Damme M, Daμμe M, Schweizer M, Hagel C, Wong A, Cooper J, Braulke T, Galliciotti G
PLOS ONE. 2012;7(4):35493.

High expression of disease-related Cln6 in the cerebral cortex, purkinje cells, dentate gyrus, and hippocampal ca1 neurons.
Thelen M, Fehr S, Schweizer M, Braulke T, Galliciotti G
J NEUROSCI RES. 2012;90(3):568-574.

Cantú syndrome is caused by mutations in ABCC9
van Bon B, Gilissen C, Grange D, Hennekam R, Kayserili H, Engels H, Reutter H, Ostergaard J, Morava E, Tsiakas K, Isidor B, Le Merrer M, Eser M, Wieskamp N, de Vries P, Steehouwer M, Veltman J, Robertson S, Brunner H, de Vries B, Hoischen A
AM J HUM GENET. 2012;90(6):1094-101.

Fibroblast growth factor 23 and calcium phosphate homeostasis after pediatric renal transplantation.
Van Husen M, Lehnhardt A, Fischer A, Brinkert F, Loos S, Oh J, Kemper M
PEDIATR TRANSPLANT. 2012;16(5):443-450.

The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module.
van Rahden V, Brand K, Najm J, Heeren J, Heeren J, Braulke T, Kutsche K, Kutsche K
HUM MOL GENET. 2012;21(23):5019-5038.

The lectin-like domain of thrombomodulin ameliorates diabetic glomerulopathy via complement inhibition
Wang H, Vinnikov I, Shahzad K, Bock F, Ranjan S, Wolter J, Kashif M, Oh J, Bierhaus A, Nawroth P, Kirschfink M, Conway E, Madhusudhan T, Isermann B
THROMB HAEMOSTASIS. 2012;108(6):1141-53.

Expert recommendations for the laboratory diagnosis of MPS VI.
Wood T, Bodamer O, Burin M, D'Almeida V, Fietz M, Giugliani R, Hawley S, Hendriksz C, Hwu W, Ketteridge D, Lukacs Z, Mendelsohn N, Miller N, Pasquali M, Schenone A, Schoonderwoerd K, Winchester B, Harmatz P
MOL GENET METAB. 2012;106(1):73-82.

"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia
Zittel S, Nickel M, Wolf N, Uyanik G, Gläser D, Ganos C, Gerloff C, Münchau A, Kohlschütter A
J NEUROL. 2012;259(11):2498-500.

Up to date knowledge on different treatment strategies for phenylketonuria
Bélanger-Quintana A, Burlina A, Harding C, Muntau A
MOL GENET METAB. 2011;104 Suppl:S19-25.

Suction catheter tip as an endobronchial foreign body.
Blohm M, Vezyroglou K, Riedel F, Roth B, Singer D
INTENS CARE MED. 2011;37(12):2052-2053.

High prevalence of renal dysfunction in children after liver transplantation: non-invasive diagnosis using a cystatin C-based equation.
Brinkert F, Kemper M, Briem-Richter A, Van Husen M, Treszl A, Ganschow R
NEPHROL DIAL TRANSPL. 2011;26(4):1407-1412.

Incidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting
Burton B, Whiteman D, , Muschol N
MOL GENET METAB. 2011;103(2):113-20.

CLN2
Chang M, Cooper J, Davidson B, van Diggelen O, Elleder M, Goebel H, Golabek A, Kida E, Kohlschütter A, Lobel P, Mole S, Schulz A, Sleat D, Warburton M, Wisniewski K
2011. The Neuronal Ceroid Lipofuscinoses (Batten Disease). Oxford University Press, .

Early-childhood membranous nephropathy due to cationic bovine serum albumin.
Debiec H, Lefeu F, Kemper M, Niaudet P, Deschênes G, Remuzzi G, Ulinski T, Ronco P
NEW ENGL J MED. 2011;364(22):2101-2110.

Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: Evidence of myelin recovery and ongoing brain maturation.
Ding X, Bley A, Kohlschütter A, Fiehler J, Lanfermann H
AM J MED GENET A. 2011.

Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations
du Moulin M, Nürnberg P, Crow Y, Rutsch F
P NATL ACAD SCI USA. 2011;108(26):E232; author reply E233.

Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase.
Encarnação M, Kollmann K, Trusch M, Braulke T, Pohl S
J BIOL CHEM. 2011;286(7):5311-5318.

Newborn screening for isovaleric acidemia using tandem mass spectrometry: data from 1.6 million newborns
Ensenauer R, Fingerhut R, Maier E, Polanetz R, Olgemöller B, Röschinger W, Muntau A
CLIN CHEM. 2011;57(4):623-6.

Large and ongoing outbreak of haemolytic uraemic syndrome, Germany, May 2011
Frank C, Faber M, Askar M, Bernard H, Fruth A, Gilsdorf A, Hohle M, Karch H, Krause G, Prager R, Spode A, Stark K, Werber D, , Oh J
EUROSURVEILLANCE. 2011;16(21):.

Epidemic profile of Shiga-toxin-producing Escherichia coli O104:H4 outbreak in Germany.
Frank C, Werber D, Cramer J, Askar M, Faber M, Matthias A, Bernard H, Fruth A, Prager R, Spode A, Wadl M, Zoufaly A, Jordan S, Kemper M, Follin P, Müller L, King L, Rosner B, Buchholz U, Stark K, Krause G, Team H
NEW ENGL J MED. 2011;365(19):1771-1780.

Immediate postoperative intensive care treatment of pediatric combined liver-kidney transplantation: outcome and prognostic factors.
Harps E, Brinkert F, Ganschow R, Briem-Richter A, Van Husen M, Schmidtke S, Herden U, Nashan B, Fischer L, Kemper M
TRANSPLANTATION. 2011;91(10):1127-1131.

Surgical aspects and outcome of combined liver and kidney transplantation in children.
Herden U, Kemper M, Ganschow R, Klaassen I, Grabhorn E, Brinkert F, Nashan B, Fischer L
TRANSPL INT. 2011;24(8):805-811.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2010/2011
Hinkelbein J, Singer D, Thiele H, Meixensberger J, Böttiger B
Notfallmedizin up2date. 2011;6(4):337-352.

Efficacy and safety of Oxalobacter formigenes to reduce urinary oxalate in primary hyperoxaluria.
Hoppe B, Groothoff J, Hulton S, Cochat P, Niaudet P, Kemper M, Deschênes G, Unwin R, Milliner D
NEPHROL DIAL TRANSPL. 2011;26(11):3609-3615.

Susceptibility to the long-term anxiogenic effects of an acute stressor is mediated by the activation of the glucocorticoid receptors.
Jakovcevski M, Schachner M, Morellini F
NEUROPHARMACOLOGY. 2011;61(8):1297-1305.

Successful pregnancy in the patient with Fanconi-Bickel syndrome undergoing daily hemodialysis.
Kędzierska K, Kwiatkowski S, Torbé A, Marchelek-Myśliwiec M, Marcinkiewicz O, Bobrek-Lesiakowska K, Gołembiewska E, Kwiatkowska E, Rzepka R, Ciechanowski K, Czajka R, Santer R
AM J MED GENET A. 2011;155A(8):2028-2030.

Follow-up survey of children who received sulfadoxine-pyrimethamine for intermittent preventive antimalarial treatment in infants
Kobbe R, Hogan B, Adjei S, Klein P, Kreuels B, Loag W, Adjei O, May J
J INFECT DIS. 2011;203(4):556-60.

Evaluating experimental treatment of leukodystrophies.
Kohlschütter A
DEV MED CHILD NEUROL. 2011;53(9):781.

Childhood leukodystrophies: a clinical perspective.
Kohlschütter A, Eichler F
Expert Rev Neurother. 2011;11(10):1485-1496.

Diagnosis and management of glutaric aciduria type I--revised recommendations.
Kölker S, Christensen E, Leonard J, Greenberg C, Boneh A, Burlina A, Burlina A, Dixon M, Duran M, Angels G, Goodman S, Koeller D, Kyllerman M, Mühlhausen C, Müller E, Okun J, Wilcken B, Hoffmann G, Burgard P
J INHERIT METAB DIS. 2011;34(3):677-694.

Ectopic craniopharyngioma.
Kordes U, Flitsch J, Hagel C, Goebell E, Schwarz R, Herberhold T, von Bueren A, Rutkowski S, Müller H
KLIN PADIATR. 2011;223(3):176-177.

Lectures based on cardinal symptoms in undergraduate medicine - effects of evaluation-based interventions on teaching large groups.
Kuhnigk O, Weidtmann K, Anders S, Hüneke B, Santer R, Harendza S
GMS Z Med Ausbild. 2011;28(1):15.

Leitsymptomvorlesungen im klinischen Studienabschnitt - Effekte evaluationsbasierter Interventionen auf eine Großgruppen-Lehrveranstaltung
Kuhnigk O, Weidtmann K, Anders S, Hüneke B, Santer R, Harendza S
GMS Z Med Ausbild. 2011;28(1):15.

Estrogen receptor alpha expression in podocytes mediates protection against apoptosis in-vitro and in-vivo.
Kummer S, Jeruschke S, Wegerich L, Peters A, Lehmann P, Seibt A, Müller F, Koleganova N, Halbenz E, Schmitt C, Bettendorf M, Mayatepek E, Gross-Weissmann M, Oh J
PLOS ONE. 2011;6(11):27457.

Liver fibrosis in recessive multicystic kidney diseases: transient elastography for early detection.
Kummer S, Sagir A, Pandey S, Feldkötter M, Habbig S, Körber F, Ney D, Hoppe B, Häussinger D, Mayatepek E, Oh J
PEDIATR NEPHROL. 2011;26(5):725-731.

Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
Lamp J, Keyser B, Koeller D, Ullrich K, Braulke T, Mühlhausen C
J BIOL CHEM. 2011;286(20):17777-17784.

Analysis of Potential Biomarkers and Modifier Genes Affecting the Clinical Course of CLN3 Disease.
Lebrun A, Moll-Khasrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole S, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A
MOL MED. 2011;17(11-12):1253-1261.

Pathogenesis, diagnosis and management of hyperkalemia.
Lehnhardt A, Kemper M
PEDIATR NEPHROL. 2011;26(3):377-384.

Dried blood spots in the diagnosis of lysosomal storage disorders--possibilities for newborn screening and high-risk population screening.
Lukacs Z, Nieves Cobos P, Keil A, Hartung R, Mengel E, Beck M, Deschauer M, Hanisch F, Santer R
CLIN BIOCHEM. 2011;44(7):476.

Functional roles of Ca(v)1.3, Ca(v)3.1 and HCN channels in automaticity of mouse atrioventricular cells: insights into the atrioventricular pacemaker mechanism.
Marger L, Mesirca P, Alig J, Torrente A, Dubel S, Engeland B, Kanani S, Fontanaud P, Striessnig J, Shin H, Isbrandt D, Ehmke H, Nargeot J, Mangoni M
CHANNELS. 2011;5(3):251-261.

Pacemaker activity and ionic currents in mouse atrioventricular node cells.
Marger L, Mesirca P, Alig J, Torrente A, Dubel S, Engeland B, Kanani S, Fontanaud P, Striessnig J, Shin H, Isbrandt D, Ehmke H, Nargeot J, Mangoni M
CHANNELS. 2011;5(3):241-250.

Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature.
Marquard J, Tarik E, Klee D, Schmitt M, Meissner T, Mayatepek E, Oh J
EUR J PEDIATR. 2011;170(2):241-245.

A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.
Marschner K, Kollmann K, Schweizer M, Braulke T, Pohl S
SCIENCE. 2011;333(6038):87-90.

IL3 variant on chromosomal region 5q31-33 and protection from recurrent malaria attacks
Meyer C, Calixto Fernandes M, Intemann C, Kreuels B, Kobbe R, Kreuzberg C, Ayim M, Ruether A, Loag W, Ehmen C, Adjei S, Adjei O, Horstmann R, May J
HUM MOL GENET. 2011;20(6):1173-81.

Residual activity and proteasomal degradation of p.Ser298Pro sulfamidase identified in patients with a mild clinical phenotype of Sanfilippo A syndrome.
Muschol N, Pohl S, Meyer A, Gal A, Ullrich K, Braulke T
AM J MED GENET A. 2011;155A(7):1634-1639.

The use of everolimus in pediatric liver transplant recipients: first experience in a single center.
Nielsen D, Briem-Richter A, Sornsakrin M, Fischer L, Nashan B, Ganschow R
PEDIATR TRANSPLANT. 2011;15(5):510-514.

Desperately seeking diarrhoea: outbreak of haemolytic uraemic syndrome caused by emerging sorbitol-fermenting shiga toxin-producing Escherichia coli O157:H-, Germany, 2009.
Nielsen S, Frank C, Fruth A, Spode A, Prager R, Graff A, Plenge-Bönig A, Loos S, Lütgehetmann M, Kemper M, Müller-Wiefel D, Werber D
ZOONOSES PUBLIC HLTH. 2011;58(8):567-572.

Stimulation of the calcium-sensing receptor stabilizes the podocyte cytoskeleton, improves cell survival, and reduces toxin-induced glomerulosclerosis
Oh J, Beckmann J, Bloch J, Hettgen V, Mueller J, Li L, Hoemme M, Gross M, Penzel R, Mundel P, Schaefer F, Schmitt C
KIDNEY INT. 2011;80(5):483-92.

N-glycans and glycosylphosphatidylinositol-anchor act on polarized sorting of mouse PrP(C) in Madin-Darby canine kidney cells.
Puig Martorell B, Altmeppen H, Thurm D, Geissen M, Conrad C, Braulke T, Glatzel M
PLOS ONE. 2011;6(9):24624.

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.
Reuser A, Verheijen F, Bali D, Diggelen v, Otto P, Germain D, Lukacs Z, Lukacs Z, Mühl A, Olivova P, Piraud M, Wuyts B, Zhang K, Keutzer J
MOL GENET METAB. 2011;104(1-2):144-148.

Open-source genomic analysis of Shiga-toxin-producing E. coli O104:H4.
Rohde H, Qin J, Cui Y, Li D, Loman N, Hentschke M, Chen W, Pu F, Peng Y, Li J, Xi F, Li S, Li Y, Zhang Z, Yang X, Zhao M, Wang P, Guan Y, Cen Z, Zhao X, Christner M, Kobbe R, Loos S, Oh J, Yang L, Danchin A, Gao G, Song Y, Li Y, Yang H, Wang J, Xu J, Pallen M, Wang J, Aepfelbacher M, Yang R, Consortium E
NEW ENGL J MED. 2011;365(8):718-724.

The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response
Staudigl M, Gersting S, Danecka M, Messing D, Woidy M, Pinkas D, Kemter K, Blau N, Muntau A
HUM MOL GENET. 2011;20(13):2628-41.

Neural cell adhesion molecule ablation in mice causes hippocampal dysplasia and loss of septal cholinergic neurons.
Tereshchenko Y, Morellini F, Dityatev A, Schachner M, Irintchev A
J COMP NEUROL. 2011;519(12):2475-2492.

New therapies in steroid-sensitive and steroid-resistant idiopathic nephrotic syndrome.
Van Husen M, Kemper M
PEDIATR NEPHROL. 2011;26(6):881-892.

Varicella zoster virus ORF25 gene product: an essential hub protein linking encapsidation proteins and the nuclear egress complex
Vizoso Pinto M, Pothineni V, Haase R, Woidy M, Lotz-Havla A, Gersting S, Muntau A, Haas J, Sommer M, Arvin A, Baiker A
J PROTEOME RES. 2011;10(12):5374-82.

Fanconi-Bickel syndrome and fertility.
von Schnakenburg C, Santer R
AM J MED GENET A. 2011;155A(10):2607.

Secondary nephrogenic diabetes insipidus as a complication of inherited renal diseases
Bockenhauer D, van't Hoff W, Dattani M, Lehnhardt A, Subtirelu M, Hildebrandt F, Bichet D
NEPHRON PHYSIOL. 2010;116(4):p23-9.

Therapy-refractory gastrointestinal motility disorder in a child with c-kit mutations.
Breuer C, Oh J, Molderings G, Schemann M, Kuch B, Mayatepek E, Adam R
WORLD J GASTROENTERO. 2010;16(34):4363-4366.

Mandibular aneurysmal bone cyst in a child misdiagnosed as acute osteomyelitis
Breuer C, Paul H, Zimmermann A, Braunstein S, Schaper J, Mayatepek E, Oh J
EUR J PEDIATR. 2010;169(8):1037-40.

Hemorrhagic necrotizing pancreatitis with a huge pseudocyst in a child with Crohn's disease.
Briem-Richter A, Grabhorn E, Wenke K, Ganschow R
EUR J GASTROEN HEPAT. 2010;22(2):234-236.

Multiplicity of Plasmodium falciparum infection following intermittent preventive treatment in infants
Buchholz U, Kobbe R, Danquah I, Zanger P, Reither K, Abruquah H, Grobusch M, Ziniel P, May J, Mockenhaupt F
MALARIA J. 2010;9:244.

Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey
Burton B, Guffon N, Roberts J, van der Ploeg A, Jones S, , Muschol N
MOL GENET METAB. 2010;101(2-3):123-9.

Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher A, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, Kuwertz-Bröking E, Wingen A, John U, Kemper M, Monnens L, Hoyer P, Weber S, Konrad M
CLIN J AM SOC NEPHRO. 2010;5(11):2075-2084.

Correspondence (letter to the editor)
Deindl P, Varnholt V
DTSCH ARZTEBL INT. 2010;107(13):229; author reply 230.

Parallel assessment of prolonged neonatal distress by empathy-based and item-based scales
Garten L, Deindl P, Schmalisch G, Metze B, Bührer C
EUR J PAIN. 2010;14(8):878-81.

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo
Gersting S, Lagler F, Eichinger A, Kemter K, Danecka M, Messing D, Staudigl M, Domdey K, Zsifkovits C, Fingerhut R, Glossmann H, Roscher A, Muntau A
HUM MOL GENET. 2010;19(10):2039-49.

Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor
Gersting S, Staudigl M, Truger M, Messing D, Danecka M, Sommerhoff C, Kemter K, Muntau A
J BIOL CHEM. 2010;285(40):30686-97.

Use of guidelines improves the neurological outcome in glutaric aciduria type I.
Heringer J, Boy S, Ensenauer R, Assmann B, Zschocke J, Harting I, Lücke T, Maier E, Mühlhausen C, Haege G, Hoffmann G, Burgard P, Kölker S
ANN NEUROL. 2010;68(5):743-752.

Aktuelle Ergebnisse notfallmedizinischer Forschung 2009/2010
Hinkelbein J, Singer D, Thiele H, Meixensberger J, Böttiger B
Notfallmedizin up2date. 2010;5(3):253-268.

Diagnostic examination of the child with urolithiasis or nephrocalcinosis.
Hoppe B, Kemper M
PEDIATR NEPHROL. 2010;25(3):403-413.

ADP-dependent platelet function prior to and in the early course of pediatric liver transplantation and persisting thrombocytopenia are positively correlated with ischemia/reperfusion injury.
Jan S, Akyildiz A, Tustas R, Ganschow R, Schmelzle M, Krieg A, Robson S, Topp S, Rogiers X, Knoefel W, Fischer L
TRANSPL INT. 2010;23(7):745-752.

Attention and executive functioning deficits in liver-transplanted children.
Kaller T, Langguth N, Ganschow R, Nashan B, Schulz K
TRANSPLANTATION. 2010;90(12):1567-1573.

Acute renal failure
Kemper M
2010. Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media: 338-345.

Nephronophthisis
Kemper M
2010. Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media: 209-213.

Nephrotic Syndrome
Kemper M
2010. Pediatric Nephrology - A Textbook for medical practitioners. GEOTAR-Media: 141-143.

Das nephrotische Syndrom im Kindesalter Das nephrotische Syndrom im Kindesalter
Klaassen I, Kemper M
Kinder Jugendmed. 2010;10(4):203-210.

Neonatal cholestasis and glucose-6-P-dehydrogenase deficiency.
Kordes U, Briem-Richter A, Santer R, Schäfer H, Singer D, Sonntag J, Steuerwald U, Schneppenheim R, Janka-Schaub G
PEDIATR BLOOD CANCER. 2010;54(5):758-760.

Neonatal cholestasis in glucose-6-phosphate dehydrogenase deficiency.
Kordes U, Briem-Richter A, Santer R, Schäfer H, Singer D, Sonntag J, Steuerwald U, Schneppenheim R, Janka-Schaub G
PEDIATR BLOOD CANCER. 2010;54(5):758-766.

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.
Kurze A, Galliciotti G, Heine C, Mole S, Quitsch A, Braulke T
HUM MUTAT. 2010;31(2):1163-1174.

New insights into tetrahydrobiopterin pharmacodynamics from Pah enu1/2, a mouse model for compound heterozygous tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
Lagler F, Gersting S, Zsifkovits C, Steinbacher A, Eichinger A, Danecka M, Staudigl M, Fingerhut R, Glossmann H, Muntau A
BIOCHEM PHARMACOL. 2010;80(10):1563-71.

Protein kinase a dependent phosphorylation of apical membrane antigen 1 plays an important role in erythrocyte invasion by the malaria parasite.
Leykauf K, Treeck M, Gilson P, Nebl T, Braulke T, Cowman A, Gilberger T, Crabb B
PLOS PATHOG. 2010;6(6):1000941.

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac M, Barrow M, Bláhová K, Bockenhauer D, Cheong H, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam R, Janssen F, Kagan M, Kariminejad A, Kemper M, Koenig J, Kogan J, Kroes H, Kuwertz-Bröking E, Lewanda A, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M
HUM MUTAT. 2010;31(9):992-1002.

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome)
Mendelsohn N, Harmatz P, Bodamer O, Burton B, Giugliani R, Jones S, Lampe C, Malm G, Steiner R, Parini R, , Muschol N
GENET MED. 2010;12(12):816-22.

Improved reversal learning and working memory and enhanced reactivity to novelty in mice with enhanced GABAergic innervation in the dentate gyrus.
Morellini F, Sivukhina E, Stoenica L, Oulianova E, Bukalo O, Jakovcevski I, Dityatev A, Irintchev A, Schachner M
CEREB CORTEX. 2010;20(11):2712-2727.

A novel single-chain antibody fragment for detection of mannose 6-phosphate-containing proteins: application in mucolipidosis type II patients and mice.
Müller-Loennies S, Galliciotti G, Kollmann K, Glatzel M, Braulke T
AM J PATHOL. 2010;177(1):240-247.

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism
Muntau A, Gersting S
J INHERIT METAB DIS. 2010;33(6):649-58.

A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.
Neu A, Eiselt M, Paul M, Sauter K, Stallmeyer B, Isbrandt D, Schulze-Bahr E
HUM MUTAT. 2010;31(8):1609-1621.

Blickdiagnose: Gangstörung und krauses Haar
Nickel M, Kohlschütter A
Neuropädiatrie. 2010;04/2010:125.

Second-line Options for Refractory Steroid-sensitive and -resistant Nephrotic Syndrome
Oh J, Kemper M
Exp Rev Clin Pharmacol. 2010;3(4):527-537.

Novel human parvovirus 4 genotype 3 in infants, Ghana
Panning M, Kobbe R, Vollbach S, Drexler J, Adjei S, Adjei O, Drosten C, May J, Eis-Hubinger A
EMERG INFECT DIS. 2010;16(7):1143-6.

Loss of N-acetylglucosamine-1-phosphotransferase gamma subunit due to intronic mutation in GNPTG causes mucolipidosis type III gamma: Implications for molecular and cellular diagnostics.
Pohl S, Encarnação M, Castrichini M, Müller-Loennies S, Muschol N, Braulke T
AM J MED GENET A. 2010;152(1):124-132.

Proteolytic processing of the gamma-subunit is associated with the failure to form GlcNAc-1-phosphotransferase complexes and mannose 6-phosphate residues on lysosomal enzymes in human macrophages.
Pohl S, Tiede S, Marschner K, Encarnação M, Castrichini M, Kollmann K, Muschol N, Ullrich K, Müller-Loennies S, Braulke T
J BIOL CHEM. 2010;285(31):23936-23944.

Familial renal glucosuria and SGLT2: from a mendelian trait to a therapeutic target.
Santer R, Calado J
CLIN J AM SOC NEPHRO. 2010;5(1):133-141.

Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines.
Schröder S, Matthes F, Hyden P, Andersson C, Fogh J, Müller-Loennies S, Braulke T, Gieselmann V, Matzner U
GLYCOBIOLOGY. 2010;20(2):248-259.

Violence against children: further evidence suggesting a relationship between burns, scalds, and the additional injuries.
Seifert D, Krohn J, Larson M, Lambe A, Püschel K, Kurth H
INT J LEGAL MED. 2010;124(1):49-54.

Value of ultrasound-guided percutaneous liver biopsy in children following liver transplantation.
Sornsakrin M, Helmke K, Briem-Richter A, Ganschow R
J PEDIATR GASTR NUTR. 2010;51(5):635-637.

Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing.
Spiekerkoetter U, Haussmann U, Mueller M, Frank T, Stehn M, Santer R, Lukacs Z
J PEDIATR-US. 2010;157(4):668-673.

Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif.
Steenhuis P, Herder S, Gelis S, Braulke T, Storch S
TRAFFIC. 2010;11(7):987-1000.

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression
Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nürnberg G, Frosch M, Kurlemann G, Roth J, Nürnberg P, Rutsch F
HUM MUTAT. 2010;31(11):E1836-50.

Glycostructures in biological systems - synthesis and function.
Thiem J, Braulke T
EUR J CELL BIOL. 2010;89(1):1.

Fibroblast growth factor 23 and bone metabolism in children with chronic kidney disease.
Van Husen M, Fischer A, Lehnhardt A, Klaassen I, Möller K, Müller-Wiefel D, Kemper M
KIDNEY INT. 2010;78(2):200-206.

Control of heart rate by cAMP sensitivity of HCN channels.
Alig J, Marger L, Mesirca P, Ehmke H, Mangoni M, Isbrandt D
P NATL ACAD SCI USA. 2009;106(29):12189-12194.

Efficacy and safety of intermittent preventive treatment with sulfadoxine-pyrimethamine for malaria in African infants
Aponte J, Schellenberg D, Egan A, Breckenridge A, Carneiro I, Critchley J, Danquah I, Dodoo A, Kobbe R, Lell B, May J, Premji Z, Sanz S, Sevene E, Soulaymani-Becheikh R, Winstanley P, Adjei S, Anemana S, Chandramohan D, Issifou S, Mockenhaupt F, Owusu-Agyei S, Greenwood B, Grobusch M, Kremsner P, Macete E, Mshinda H, Newman R, Slutsker L, Tanner M, Alonso P, Menendez C
LANCET. 2009;374(9700):1533-42.

Sorting of lysosomal proteins.
Braulke T, Bonifacino J
BBA-MOL CELL RES. 2009;1793(4):605-614.

Prevalence of polyomavirus viruria (JC virus/BK virus) in children following liver transplantation.
Brinkert F, Briem-Richter A, Ilchmann C, Kemper M, Ganschow R
PEDIATR TRANSPLANT. 2009.

Transplantation procedures in children with primary hyperoxaluria type 1: outcome and longitudinal growth.
Brinkert F, Ganschow R, Helmke K, Harps E, Fischer L, Nashan B, Hoppe B, Kulke S, Müller-Wiefel D, Kemper M
TRANSPLANTATION. 2009;87(9):1415-1421.

Chronic mucocutaneous candidiasis may cause elevated gliadin antibodies.
Brinkert F, Sornsakrin M, Krebs-Schmitt D, Ganschow R
ACTA PAEDIATR. 2009.

Computer simulations suggest that acute correction of hyperglycaemia with an insulin bolus protocol might be useful in brain FDG PET.
Buchert R, Santer R, Brenner W, Apostolova I, Mester J, Clausen M, Silverman D
NUKLEARMED-NUCL MED. 2009;48(1):44-54.

Comparison of three clinical rating scales in Friedreich ataxia (FRDA).
Bürk K, Mälzig U, Wolf S, Heck S, Dimitriadis K, Schmitz-Hübsch T, Hering S, Lindig T, Haug V, Timmann D, Degen I, Kruse B, Dörr J, Ratzka S, Ivo A, Schöls L, Boesch S, Klockgether T, Klopstock T, Schulz J
MOVEMENT DISORD. 2009.

Microstructural callosal abnormalities in normal-appearing brain of children with developmental delay detected with diffusion tensor imaging.
Ding X, Sun Y, Kruse B, Illies T, Zeumer H, Fiehler J, Lanfermann H
EUR RADIOL. 2009;19(6):1537-1543.

Biologika in der Therapie des nephrotischen Syndroms.(Biologicals in the treatment of childhood nephrotic syndrome)
Dötsch J, Müller-Wiefel D, Kemper M
MONATSSCHR KINDERH. 2009;157(3):247-253.

Urinary proteome pattern in children with renal Fanconi syndrome.
Drube J, Schiffer E, Mischak H, Kemper M, Neuhaus T, Pape L, Lichtinghagen R, Ehrich J
NEPHROL DIAL TRANSPL. 2009;24(7):2161-2169.

Home-based exercise training as maintenance after outpatient pulmonary rehabilitation
du Moulin M, Taube K, Wegscheider K, Behnke M, van den Bussche H
RESPIRATION. 2009;77(2):139-45.

Acquired von Willebrand syndrome as side effect of valproic acid therapy in children is rare.
Eberl W, Budde U, Bentele K, Christen H, Knapp R, Mey A, Schneppenheim R
HAMOSTASEOLOGIE. 2009;29(2):137-142.

Metachromatic leukodystrophy: a scoring system for brain MR imaging observations.
Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A, Kohlschütter A, Loes D, Kraegeloh-Mann I
AM J NEURORADIOL. 2009;30(10):1893-1897.

Mental retardation and inborn errors of metabolism.
García-Cazorla A, Wolf N, Serrano M, Moog U, Pérez-Dueñas B, Póo P, Pineda M, Campistol J, Hoffmann G
J INHERIT METAB DIS. 2009;32(5):597-608.

Inborn errors of metabolism and motor disturbances in children.
García-Cazorla A, Wolf N, Serrano M, Pérez-Dueñas B, Pineda M, Campistol J, Fernández-Alvarez E, Colomer J, DiMauro S, Hoffmann G
J INHERIT METAB DIS. 2009;32(5):618-629.

Respiratory response of malignant and placental cells to changes in oxygen concentration.
Garedew A, Kämmerer U, Singer D
RESP PHYSIOL NEUROBI. 2009;165(2-3):154-160.

Lysosomes.
Gieselmann V, Braulke T
BBA-MOL CELL RES. 2009;1793(4):603-604.

Proteomic analysis of mononuclear cells of patients with minimal-change nephrotic syndrome of childhood.
González E, Neuhaus T, Kemper M, Girardin E
NEPHROL DIAL TRANSPL. 2009;24(1):149-155.

Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I.
Harting I, Neumaier-Probst E, Seitz A, Maier E, Assmann B, Baric I, Troncoso M, Mühlhausen C, Zschocke J, Boy N, Hoffmann G, Garbade Sven F, Kölker S
BRAIN. 2009;132(7):1764-1782.

Abnormal myelination in Angelman syndrome.
Harting I, Seitz A, Rating D, Sartor K, Zschocke J, Janssen B, Ebinger F, Wolf N
EUR J PAEDIATR NEURO. 2009;13(3):271-276.

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection.
Henneke M, Diekmann S, Ohlenbusch A, Kaiser J, Engelbrecht V, Kohlschütter A, Krätzner R, Madruga-Garrido M, Mayer M, Opitz L, Rodriguez D, Rüschendorf F, Schumacher J, Thiele H, Thoms S, Steinfeld R, Nürnberg P, Gärtner J
NAT GENET. 2009;41(7):773-775.

Neuronal ceroid lipofuscinoses.
Jalanko A, Braulke T
BBA-MOL CELL RES. 2009;1793(4):697-709.

Urinary tract infections in children after renal transplantation.
John U, Kemper M
PEDIATR NEPHROL. 2009;24(6):1129-1136.

Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells.
Klein D, Yaghootfam A, Matzner U, Koch B, Braulke T, Gieselmann V
BIOL CHEM. 2009;390(1):41-48.

Abetalipoproteinemia
Kohlschütter A
2009. Encyclopedia of Molecular Mechanisms of Disease. Springer Verlag London: 666-666.

Ataxia due to vitamin E deficiency
Kohlschütter A
2009. Encyclopedia of Molecular Mechanisms of Disease. Springer Verlag London: 165-166.

Metachromatische Leukodystrophie (MLD)
Kohlschütter A
2009. Neuropädiatrie: Evidenzbasierte Therapie. Elsevier, München: 102-104.

Neuronale Ceroid-Lipofuszinosen
Kohlschütter A
2009. Neuropädiatrie: Evidenzbasierte Therapie. Elsevier, München: 104-107.

Refsum disease
Kohlschütter A
2009. Encyclopedia of Molecular Mechanisms of Disease. Springer Verlag London: 1812-1813.

Leukodystrophies and other genetic metabolic leukoencephalopathies in children and adults.
Kohlschütter A, Bley A, Brockmann K, Gärtner J, Krägeloh-Mann I, Rolfs A, Schöls L
BRAIN DEV-JPN. 2009.

Neurometabolic disorders and epilepsy
Kohlschütter A, Plecko B
2009. Advanced Therapy in Epilepsy. BC Decker Inc: 92-98.

Towards understanding the neuronal ceroid lipofuscinoses.
Kohlschütter A, Schulz A
BRAIN DEV-JPN. 2009;31(7):499-502.

Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status.
Kohlschütter B, Ellerbrok M, Merkel M, Tchirikov M, Zschocke J, Santer R, Ullrich K
J INHERIT METAB DIS. 2009.

Mannose phosphorylation in health and disease.
Kollmann K, Pohl S, Marschner K, Encarnação M, Sakwa I, Stephan T, Poorthuis B, Lübke T, Müller-Loennies S, Storch S, Braulke T
EUR J CELL BIOL. 2009.

Uberbringen schlechter Nachrichten--Videogestützte Trainingseinheit für Medizinstudenten
Kopecky-Wenzel M, Maier E, Muntau A, Reinhardt D, Frank R
Z KINDER JUGENDPSYCHIATR PSYCHOTHER. 2009;37(2):139-44.

The value of immunoprophylaxis for cytomegalovirus infection with intravenous immunoglobulin in pediatric liver transplant recipients receiving a low-dose immunosupressive regimen.
Krampe K, Briem-Richter A, Fischer L, Nashan B, Ganschow R
PEDIATR TRANSPLANT. 2009.

Effectiveness of Rex shunt in children with portal hypertension following liver transplantation or with primary portal hypertension.
Krebs-Schmitt D, Briem-Richter A, Grabhorn E, Burdelski M, Helmke K, Broering D, Ganschow R
PEDIATR TRANSPLANT. 2009.

Retention of lysosomal protein CLN5 in the endoplasmic reticulum causes neuronal ceroid lipofuscinosis in Asian sibship.
Lebrun A, Storch S, Rüschendorf F, Schmiedt M, Kyttälä A, Mole S, Kitzmüller C, Saar K, Mewasingh L, Boda V, Kohlschütter A, Ullrich K, Braulke T, Schulz A
HUM MUTAT. 2009;30(5):651-661.

Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Lukacs Z, Paulina N, Mengel E, Hartung R, Beck M, Deschauer M, Keil A, Santer R
J INHERIT METAB DIS. 2009.

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
Maier E, Gersting S, Kemter K, Jank J, Reindl M, Messing D, Truger M, Sommerhoff C, Muntau A
HUM MOL GENET. 2009;18(9):1612-23.

Dystonia and deafness due to SUCLA2 defect: clinical course and biochemical markers in 16 children
Morava E, Steuerwald U, Carrozzo R, Kluijtmans L, Joensen F, Santer R, Dionisi-Vici C, Wevers R
MITOCHONDRION. 2009;9(6):438-442.

Characterization of the transcriptional regulation of the human MT1-MMP gene and association of risk reduction for focal-segmental glomerulosclerosis with two functional promoter SNPs.
Munkert A, Helmchen U, Kemper M, Bubenheim M, Stahl R, Harendza S
NEPHROL DIAL TRANSPL. 2009;24(3):735-742.

Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.
Pohl S, Marschner K, Storch S, Braulke T
BIOL CHEM. 2009;390(7):521-527.

Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.
Pohl S, Tiede S, Castrichini M, Cantz M, Gieselmann V, Braulke T
BBA-MOL BASIS DIS. 2009;1792(3):221-225.

Outcome of severe unilateral cerebellar hypoplasia.
Poretti A, Limperopoulos C, Roulet-Perez E, Wolf N, Rauscher C, Prayer D, Müller A, Weissert M, Kotzaeridou U, Plessis D, Adre J, Huisman T, Boltshauser E
DEV MED CHILD NEUROL. 2009.

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).
Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M
CLIN GENET. 2009.

The insulin receptor substrate of 53 kDa (IRSp53) limits hippocampal synaptic plasticity.
Sawallisch C, Berhörster K, Disanza A, Mantoani S, Kintscher M, Stoenica L, Dityatev A, Sieber S, Kindler S, Morellini F, Schweizer M, Boeckers T, Korte M, Scita G, Kreienkamp H
J BIOL CHEM. 2009;284(14):9225-9236.

Molecular analysis and clinical aspects of four patients with Chédiak-Higashi syndrome (CHS).
Scherber E, Beutel K, Ganschow R, Schulz A, Janka-Schaub G, Zur Stadt U
CLIN GENET. 2009.

B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome.
Sornsakrin M, Wenner K, Ganschow R
EUR J PEDIATR. 2009;168(7):825-831.

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner M, Boehles H, Das A, Haase C, Hennermann J, Karall D, de Klerk H, Knerr I, Koch H, Plecko B, Röschinger W, Schwab K, Scheible D, Wijburg F, Zschocke J, Mayatepek E, Wendel U
J INHERIT METAB DIS. 2009.

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop.
Spiekerkoetter U, Lindner M, Santer R, Grotzke M, Baumgartner M, Boehles H, Das A, Haase C, Hennermann J, Karall D, de Klerk H, Knerr I, Koch H, Plecko B, Röschinger W, Schwab K, Scheible D, Wijburg F, Zschocke J, Mayatepek E, Wendel U
J INHERIT METAB DIS. 2009.

Aktuelle Ergebnisse notfallmedizinischer Forschung.
Spöhr F, Bernhard M, Meixensberger J, Singer D, Thiele H, Böttiger B
Notfallmedizin up2date. 2009;4:345-359.

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
Taanman J, Rahman S, Pagnamenta A, Morris A, Bitner-Glindzicz M, Wolf N, Leonard J, Clayton P, Schapira A
HUM MUTAT. 2009;30(2):248-254.

Epilepsy and inborn errors of metabolism in children.
Wolf N, García-Cazorla A, Hoffmann G
J INHERIT METAB DIS. 2009;32(5):609-617.

AGC1 deficiency and cerebral hypomyelination.
Wolf N, Knaap v, Marjo S
NEW ENGL J MED. 2009;361(20):1997-1998.

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features.
Wolf N, Rahman S, Schmitt B, Taanman J, Duncan A, Harting I, Wohlrab G, Ebinger F, Rating D, Bast T
EPILEPSIA. 2009;50(6):1596-1607.

Molecular analysis of the GlcNac-1-phosphotransferase.
Braulke T, Pohl S, Storch S
J INHERIT METAB DIS. 2008.

Splenic infarction in a patient hereditary spherocytosis, protein C deficiency and acute infectious mononucleosis
Breuer C, Janssen G, Laws H, Schaper J, Mayatepek E, Schroten H, Tenenbaum T
EUR J PEDIATR. 2008;167(12):1449-52.

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion.
Calado J, Sznajer Y, Metzger D, Rita A, Hogan M, Kattamis A, Scharf M, Tasic V, Greil J, Brinkert F, Kemper M, Santer R
NEPHROL DIAL TRANSPL. 2008;23(12):3874-3879.

Molecular order in mucolipidosis II and III nomenclature.
Cathey S, Kudo M, Stephan T, Raas-Rothschild A, Braulke T, Beck M, Taylor H, Canfield W, Leroy J, Neufeld E, McKusick V
AM J MED GENET A. 2008;146(4):512-513.

AP-1 and AP-3 mediate sorting of melanosomal and lysosomal membrane proteins into distinct post-Golgi trafficking pathways.
Chapuy B, Tikkanen R, Mühlhausen C, Wenzel D, von Figura K, Höning S
TRAFFIC. 2008;9(7):1157-1172.

MRI abnormalities in normal-appearing brain tissue of treated adult PKU patients.
Ding X, Fiehler J, Kohlschütter B, Wittkugel O, Grzyska U, Zeumer H, Ullrich K
J MAGN RESON IMAGING. 2008;27(5):998-1004.

Rituximab: is replacement of cyclophosphamide and calcineurin inhibitors in steroid-dependent nephrotic syndrome possible?
Dötsch J, Müller-Wiefel D, Kemper M
PEDIATR NEPHROL. 2008;23(1):3-7.

Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency.
Engel K, Nuoffer J, Mühlhausen C, Klaus V, Largiadèr C, Tsiakas K, Santer R, Wermuth B, Häberle J
MOL GENET METAB. 2008;94(3):292-297.

Analysis of the CC chemokine receptor 5Delta32 polymorphism in pediatric liver transplant recipients.
Fischer-Maas L, Schneppenheim R, Oyen F, Grabhorn E, Briem-Richter A, Fischer L, Ganschow R
PEDIATR TRANSPLANT. 2008;12(7):769-772.

Disease progression in HIV-1 infected children and adolescents--results of a German-Austrian cohort study.
Funk M, Buchholz B, Notheis G, Neubert J, Feiterna-Sperling C, Ganschow R, Simon T, Hornemann F, Peters A, Rütschle H, Horneff G, Lechner E, Hanschmann K, Wintergerst U
EUR J MED RES. 2008;13(8):371-378.

Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability
Gersting S, Kemter K, Staudigl M, Messing D, Danecka M, Lagler F, Sommerhoff C, Roscher A, Muntau A
AM J HUM GENET. 2008;83(1):5-17.

Emergency liver transplantation in neonates with acute liver failure: long-term follow-up.
Grabhorn E, Briem-Richter A, Fischer L, Ganschow R
TRANSPLANTATION. 2008;86(7):932-936.

Neonates with severe infantile hepatic hemangioendothelioma: limitations of liver transplantation.
Grabhorn E, Briem-Richter A, Fischer L, Krebs-Schmitt D, Ganschow R
PEDIATR TRANSPLANT. 2008.

Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias.
Hagos Y, Krick W, Braulke T, Mühlhausen C, Burckhardt G, Burckhardt B
PFLUG ARCH EUR J PHY. 2008;457(1):223-231.

Pharmacokinetics and immunodynamics of basiliximab in pediatric renal transplant recipients on mycophenolate mofetil comedication.
Höcker B, Kovarik J, Daniel V, Opelz G, Fehrenbach H, Holder M, Hoppe B, Hoyer P, Jungraithmayr T, Köpf-Shakib S, Laube G, Müller-Wiefel D, Offner G, Plank C, Schröder M, Weber L, Zimmerhackl L, Tönshoff B
TRANSPLANTATION. 2008;86(9):1234-1240.

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis.
Jabs S, Quitsch A, Käkelä R, Koch B, Tyynelä J, Helmut B, Glatzel M, Walkley S, Saftig P, Vanier M, Braulke T
J NEUROCHEM. 2008;106(3):1415-1425.

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.
Jäggi L, Zurflüh M, Schuler A, Ponzone A, Porta F, Fiori L, Giovannini M, Santer R, Hoffmann G, Ibel H, Wendel U, Ballhausen D, Baumgartner M, Blau N
MOL GENET METAB. 2008;93(3):295-305.

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Keyser B, Glatzel M, Stellmer F, Kortmann B, Lukacs Z, Kölker S, Sauer S, Muschol N, Herdering W, Thiem J, Goodman S, Koeller D, Ullrich K, Braulke T, Mühlhausen C
BBA-MOL BASIS DIS. 2008;1782(6):385-390.

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Keyser B, Mühlhausen C, Dickmanns A, Christensen E, Muschol N, Ullrich K, Braulke T
HUM MOL GENET. 2008;17(24):3854-3863.

International cooperation in the expansion of a newborn screening programme in Lebanon: a possible model for other programmes.
Khneisser I, Adib S, Megarbane A, Lukacs Z
J INHERIT METAB DIS. 2008.

Q fever in young children, Ghana
Kobbe R, Kramme S, Kreuels B, Adjei S, Kreuzberg C, Panning M, Adjei O, Fleischer B, May J
EMERG INFECT DIS. 2008;14(2):344-6.

Simvastatin treatment shows no effect on the incidence of cerebral malaria or parasitemia during experimental malaria
Kobbe R, Schreiber N, May J, Jacobs T
ANTIMICROB AGENTS CH. 2008;52(4):1583-4.

Spatial variation of malaria incidence in young children from a geographically homogeneous area with high endemicity
Kreuels B, Kobbe R, Adjei S, Kreuzberg C, von Reden C, Bäter K, Klug S, Busch W, Adjei O, May J
J INFECT DIS. 2008;197(1):85-93.

Does proximal myotonic myopathy show anticipation?
Kruse B, Wöhrle D, Steinbach P, Gal A
HUM MUTAT. 2008;29(8):100-102.

Oral everolimus inhibits neointimal proliferation in prosthetic pulmonary valved stents in pigs.
Kuehne T, Pietzner K, Lehmkuhl H, Gelernter D, Peters B, Krueger J, Meinus C, Klimes K, Brinkert F, Ewert P, Berger F
J HEART VALVE DIS. 2008;17(4):465-472.

Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria.
Landvogt C, Mengel E, Bartenstein P, Buchholz H, Schreckenberger M, Siessmeier T, Scheurich A, Feldmann R, Weglage J, Cumming P, Zepp F, Ullrich K
J CEREBR BLOOD F MET. 2008;28(4):824-831.

Elevated asymmetric dimethylarginine (ADMA) and inverse correlation between circulating ADMA and glomerular filtration rate in children with sporadic focal segmental glomerulosclerosis (FSGS).
Lücke T, Kanzelmeyer N, Chobanyan K, Tsikas D, Franke D, Kemper M, Ehrich J, Das A
NEPHROL DIAL TRANSPL. 2008;23(2):734-740.

X-linked adrenoleukodystrophy phenotype is independent of ABCD2 genotype
Maier E, Mayerhofer P, Asheuer M, Köhler W, Rothe M, Muntau A, Roscher A, Holzinger A, Aubourg P, Berger J
BIOCHEM BIOPH RES CO. 2008;377(1):176-80.

Pregnancies in glycogen storage disease type Ia.
Martens D, Rake J, Schwarz M, Ullrich K, Weinstein D, Merkel M, Sauer P, Smit G
AM J OBSTET GYNECOL. 2008;198(6):1-7.

Microarray-based DNA methylation analysis of imprinted loci in a patient with transient neonatal diabetes mellitus.
Martin-Subero J, Bibikova M, Mackay D, Wickham-Garcia E, Sellami N, Richter J, Santer R, Caliebe A, Fan J, Temple I, Siebert R
AM J MED GENET A. 2008;146(24):3227-3229.

Therapeutic and prophylactic effect of intermittent preventive anti-malarial treatment in infants (IPTi) from Ghana and Gabon
May J, Adjei S, Busch W, Gabor J, Issifou S, Kobbe R, Kreuels B, Lell B, Schwarz N, Adjei O, Kremsner P, Grobusch M
MALARIA J. 2008;7:198.

The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome).
Meyer A, Kossow K, Gal A, Steglich C, Mühlhausen C, Ullrich K, Braulke T, Muschol N
HUM MUTAT. 2008;29(5):770.

Creatine uptake in mouse hearts with genetically altered creatine levels.
Michiel T, Makinen K, Sebag-Montefiore L, Hunyor I, Fischer A, Wallis J, Isbrandt D, Lygate C, Neubauer S
J MOL CELL CARDIOL. 2008;45(3):453-459.

Membrane translocation of glutaric acid and its derivatives.
Mühlhausen C, Burckhardt B, Hagos Y, Burckhardt G, Keyser B, Lukacs Z, Ullrich K, Braulke T
J INHERIT METAB DIS. 2008.

The clinical course of steroid-sensitive childhood nephrotic syndrome is associated with a functional IL12B promoter polymorphism.
Müller-Berghaus J, Kemper M, Hoppe B, Querfeld U, Müller-Wiefel D, Morahan G, Schadendorf D, Tenbrock K
NEPHROL DIAL TRANSPL. 2008;23(12):3841-3844.

Efficacy and safety of basiliximab in pediatric renal transplant patients receiving cyclosporine, mycophenolate mofetil, and steroids.
Offner G, Toenshoff B, Höcker B, Krauss M, Bulla M, Cochat P, Fehrenbach H, Fischer W, Foulard M, Hoppe B, Hoyer P, Jungraithmayr T, Klaus G, Latta K, Leichter H, Mihatsch M, Misselwitz J, Montoya C, Müller-Wiefel D, Neuhaus T, Pape L, Querfeld U, Plank C, Schwarke D, Wygoda S, Zimmerhackl L
TRANSPLANTATION. 2008;86(9):1241-1248.

Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis.
Prietsch V, Arnold S, Kraegeloh-Mann I, Kuehr J, Santer R
NEUROPEDIATRICS. 2008;39(1):51-54.

Cardiac structure and function during ageing in energetically compromised Guanidinoacetate N-methyltransferase (GAMT)-knockout mice - a one year longitudinal MRI study.
Schneider J, Stork L, Bell J, Michiel T, Isbrandt D, Clarke K, Watkins H, Lygate C, Neubauer S
J CARDIOVASC MAGN R. 2008;10(1):9.

High concentrations of phenylalanine stimulate peroxisome proliferator-activated receptor gamma: implications for the pathophysiology of phenylketonuria.
Schumacher U, Lukacs Z, Kaltschmidt C, Freudlsperger C, Schulz D, Kompisch K, Müller R, Rudolph T, Santer R, Lorke D, Ullrich K
NEUROBIOL DIS. 2008;32(3):385-390.

Pharmacokinetic and pharmacodynamic properties of oral L-citrulline and L-arginine: impact on nitric oxide metabolism.
Schwedhelm E, Maas R, Freese R, Jung D, Lukacs Z, Jambrecina A, Spickler W, Schulze F, Böger R
BRIT J CLIN PHARMACO. 2008;65(1):51-59.

Multiple post-translational modifications of mouse insulin-like growth factor binding protein-6 expressed in epithelial Madin-Darby canine kidney cells.
Shalamanova L, Kübler B, Storch S, Scharf J, Braulke T
MOL CELL ENDOCRINOL. 2008;295(1-2):18-23.

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Spinazzola A, Santer R, Akman O, Tsiakas K, Schaefer H, Ding X, Karadimas C, Shanske S, Ganesh J, Salvatore D, Zeviani M
ARCH NEUROL-CHICAGO. 2008;65(8):1108-1113.

Liver transplantation for fulminant hepatic failure in infancy: A single center experience.
Strauss A, Grabhorn E, Sornsakrin M, Briem-Richter A, Fischer L, Nashan B, Ganschow R
PEDIATR TRANSPLANT. 2008.

Extreme variation in apoptosis capacity amongst lymphoid cells of Nijmegen breakage syndrome patients.
Thierfelder N, Demuth I, Burghardt N, Schmelz K, Sperling K, Chrzanowska K, Seemanova E, Digweed M
EUR J CELL BIOL. 2008;87(2):111-121.

SIX2 and BMP4 mutations associate with anomalous kidney development
Weber S, Taylor J, Winyard P, Baker K, Sullivan-Brown J, Schild R, Knüppel T, Zurowska A, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri G, Bakkaloglu A, Mehls O, Antignac C, Network E, Schaefer F, Burdine R
J AM SOC NEPHROL. 2008;19(5):891-903.

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.
Winchester B, Bali D, Bodamer O, Caillaud C, Christensen E, Cooper A, Cupler E, Deschauer M, Fumi K, Jackson M, Kishnani P, Lacerda L, Ledvinová J, Lugowska A, Lukacs Z, Maire I, Mandel H, Mengel E, Müller-Felber W, Piraud M, Reuser A, Rupar T, Sinigerska I, Szlago M, Verheijen F, van Diggelen O, Wuyts B, Zakharova E, Keutzer J
MOL GENET METAB. 2008;93(3):275-281.

Initial report from the Hunter Outcome Survey
Wraith J, Beck M, Giugliani R, Clarke J, Martin R, Muenzer J, , Muschol N
GENET MED. 2008;10(7):508-16.

Gram-negative peritonitis in children undergoing long-term peritoneal dialysis.
Zurowska A, Feneberg R, Warady B, Zimmering M, Maria M, Testa S, Calyskan S, Drozdz D, Salusky I, Kemper M, Ekim M, Verrina E, Misselwitz J, Schaefer F
AM J KIDNEY DIS. 2008;51(3):455-462.

Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria
Beblo S, Reinhardt H, Demmelmair H, Muntau A, Koletzko B
J PEDIATR-US. 2007;150(5):479-84.

Clinical relevance of autoantibodies after pediatric liver transplantation.
Briem-Richter A, Grabhorn E, Helmke K, Manns M, Ganschow R, Burdelski M
CLIN TRANSPLANT. 2007;21(3):427-432.

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Sivia D, Bertini E, Franke B, Kluijtmans L, Meschini M, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli F, van Rooij A, Diana V, Morava E, Wevers R
BRAIN. 2007;130(3):862-874.

Prevention of plasticity of endocannabinoid signaling inhibits persistent limbic hyperexcitability caused by developmental seizures
Chen K, Neu A, Howard A, Földy C, Echegoyen J, Hilgenberg L, Smith M, Mackie K, Soltesz I
J NEUROSCI. 2007;27(1):46-58.

Homeostatic plasticity studied using in vivo hippocampal activity-blockade
Echegoyen J, Neu A, Graber K, Soltesz I
PLOS ONE. 2007;2(8):e700.

Liver transplantation in children with progressive familial intrahepatic cholestasis.
Englert C, Grabhorn E, Briem-Richter A, Rogiers X, Burdelski M, Ganschow R
TRANSPLANTATION. 2007;84(10):1361-1363.

Cell type-specific gating of perisomatic inhibition by cholecystokinin
Földy C, Lee S, Szabadics J, Neu A, Soltesz I
NAT NEUROSCI. 2007;10(9):1128-30.

[Leukodystrophies: diseases of white matter of the nervous system]
Gärtner J, Kohlschütter A, Gieselmann V
BUNDESGESUNDHEITSBLATT. 2007;50(12):1531-1540.

Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up.
Görg M, Wilck W, Granitzny B, Suerken A, Lukacs Z, Ding X, Schulte-Markwort M, Kohlschütter A
J CHILD NEUROL. 2007;22(9):1139-1142.

Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS).
Haas D, Garbade S, Vohwinkel C, Muschol N, Trefz F, Penzien J, Zschocke J, Hoffmann G, Burgard P
J INHERIT METAB DIS. 2007;30(3):375-387.

Central laboratory reassessment of IGF-I, IGF-binding protein-3, and GH serum concentrations measured at local treatment centers in growth-impaired children: implications for the agreement between outpatient screening and the results of somatotropic axis functional testing.
Hauffa B, Lehmann N, Bettendorf M, Mehls O, Dörr H, Stahnke N, Steinkamp H, Said E, Ranke M
EUR J ENDOCRINOL. 2007;157(5):597-603.

In vivo magnetic resonance spectroscopy of transgenic mice with altered expression of guanidinoacetate methyltransferase and creatine kinase isoenzymes.
Heerschap A, Kan H, Nabuurs C, Renema W, Isbrandt D, Wieringa B
Subcell Biochem. 2007;46:119-148.

Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6.
Heine C, Quitsch A, Storch S, Martin Y, Lonka L, Lehesjoki A, Mole S, Braulke T
MOL MEMBR BIOL. 2007;24(1):74-87.

Glucose metabolism and insulin secretion in a patient with ABCC8 mutation and Fanconi-Bickel syndrome caused by maternal isodisomy of chromosome 3.
Hoffman T, Blanco E, Lane A, Galvin-Parton P, Gadi I, Santer R, DeLeón D, Stanley C, Wilson T
CLIN GENET. 2007;71(6):551-557.

Feature construction can improve diagnostic criteria for high-dimensional metabolic data in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency.
Ho S, Lukacs Z, Hoffmann G, Lindner M, Wetter T
CLIN CHEM. 2007;53(7):1330-1337.

Opposing modifications in intrinsic currents and synaptic inputs in post-traumatic mossy cells
Howard A, Neu A, Morgan R, Echegoyen J, Soltesz I
J NEUROPHYSIOL. 2007;97(3):2394-409.

Creatine uptake in brain and skeletal muscle of mice lacking guanidinoacetate methyltransferase assessed by magnetic resonance spectroscopy.
Kan H, Meeuwissen E, Asten v, Jack J, Isbrandt D, Isbrandt D, Heerschap A
J APPL PHYSIOL. 2007;102(6):2121-2127.

Favorable long-term outcome of nephrotic syndrome after allogeneic hematopoietic stem cell transplantation.
Kemper M, Güngör T, Halter J, Schanz U, Neuhaus T
CLIN NEPHROL. 2007;67(1):5-11.

Prognosis of antenatally diagnosed oligohydramnios of renal origin.
Kemper M, Müller-Wiefel D
EUR J PEDIATR. 2007;166(5):393-398.

Antenatal oligohydramnios of renal origin: long-term outcome.
Klaassen I, Neuhaus T, Müller-Wiefel D, Kemper M
NEPHROL DIAL TRANSPL. 2007;22(2):432-439.

Malaria incidence and efficacy of intermittent preventive treatment in infants (IPTi)
Kobbe R, Adjei S, Kreuzberg C, Kreuels B, Thompson B, Thompson P, Marks F, Busch W, Tosun M, Schreiber N, Opoku E, Adjei O, Meyer C, May J
MALARIA J. 2007;6:163.

Travel-associated Coxiella burnetii infections
Kobbe R, Kramme S, Gocht A, Werner M, Lippert U, May J, Burchard G
TRAVEL MED INFECT DI. 2007;5(6):374-9.

A randomized controlled trial of extended intermittent preventive antimalarial treatment in infants
Kobbe R, Kreuzberg C, Adjei S, Thompson B, Langefeld I, Thompson P, Abruquah H, Kreuels B, Ayim M, Busch W, Marks F, Amoah K, Opoku E, Meyer C, Adjei O, May J
CLIN INFECT DIS. 2007;45(1):16-25.

Chloroquine-resistant malaria in Malawi
Kobbe R, Meyer C, May J
NEW ENGL J MED. 2007;356(8):868; author reply 869.

Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany.
Kölker S, Garbade S, Boy N, Maier E, Meissner T, Mühlhausen C, Hennermann J, Lücke T, Häberle J, Baumkötter J, Haller W, Muller E, Zschocke J, Burgard P, Hoffmann G
PEDIATR RES. 2007;62(3):357-363.

Selective late steroid withdrawal after renal transplantation.
Laube G, Falger J, Kemper M, Zingg-Schenk A, Neuhaus T
PEDIATR NEPHROL. 2007;22(11):1947-1952.

Angiotensin-converting enzyme inhibitor fetopathy: long-term outcome.
Laube G, Kemper M, Schubiger G, Neuhaus T
ARCH DIS CHILD-FETAL. 2007;92(5):402-403.

De novo autoimmune hepatitis after liver transplantation.
Lohse A, Weiler-Normann C, Burdelski M
HEPATOL RES. 2007;37(3):462.

Developmental changes in the L-arginine/nitric oxide pathway from infancy to adulthood: plasma asymmetric dimethylarginine levels decrease with age.
Lücke T, Kanzelmeyer N, Kemper M, Tsikas D, Das A
CLIN CHEM LAB MED. 2007;45(11):1525-1530.

[Maternal vitamin B12 deficiency: cause for neurological symptoms in infancy]
Lücke T, Korenke G, Poggenburg I, Bentele K, Das A, Hartmann H
Z GEBURTSH NEONATOL . 2007;211(4):157-161.

Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patients.
Lukacs Z, Hartung R, Beck M, Keil A, Mengel E
J INHERIT METAB DIS. 2007;30(4):614.

CNS or bone marrow involvement as risk factors for poor survival in post-transplantation lymphoproliferative disorders in children after solid organ transplantation.
Maecker B, Jack T, Zimmermann M, Abdul-Khaliq H, Burdelski M, Fuchs A, Hoyer P, Koepf S, Kraemer U, Laube G, Müller-Wiefel D, Netz H, Pohl M, Toenshoff B, Wagner H, Wallot M, Welte K, Melter M, Offner G, Klein C
J CLIN ONCOL. 2007;25(31):4902-4908.

Pneumococcal conjugate vaccine provides early protective antibody responses in children after related and unrelated allogeneic hematopoietic stem cell transplantation.
Meisel R, Kuypers L, Dirksen U, Schubert R, Gruhn B, Strauss G, Beutel K, Groll A, Duffner U, Blütters-Sawatzki R, Holter W, Feuchtinger T, Grüttner H, Schroten H, Zielen S, Ohmann C, Laws H, Dilloo D
BLOOD. 2007;109(6):2322-2326.

[Food consumption of children and adolescents in Germany. Results of the German Health Interview and Examination Survey for Children and Adolescents (KiGGS)]
Mensink G, Kleiser C, Briem-Richter A
BUNDESGESUNDHEITSBLATT. 2007;50(5-6):609-623.

Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A).
Meyer A, Kossow K, Gal A, Mühlhausen C, Ullrich K, Braulke T, Muschol N
PEDIATRICS. 2007;120(5):1255-1261.

Postsynaptic origin of CB1-dependent tonic inhibition of GABA release at cholecystokinin-positive basket cell to pyramidal cell synapses in the CA1 region of the rat hippocampus
Neu A, Földy C, Soltesz I
J PHYSIOL-LONDON. 2007;578(Pt 1):233-47.

Obesity and other clinical endpoints in steroid-sensitive nephrotic syndrome.
Neuhaus T, Rüth E, Kemper M
PEDIATR NEPHROL. 2007;22(3):472-473.

Elevated serum biotinidase activity in hepatic glycogen storage disorders--a convenient biomarker.
Paesold-Burda P, Baumgartner M, Santer R, Bosshard N, Steinmann B
J INHERIT METAB DIS. 2007;30(6):896-902.

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.
Pohl S, Mitchison H, Kohlschütter A, van Diggelen O, Braulke T, Storch S
J NEUROCHEM. 2007;103(6):2177-2188.

Worldwide variation of dialysis-associated peritonitis in children.
Schaefer F, Feneberg R, Aksu N, Donmez O, Sadikoglu B, Alexander S, Mir S, Ha I, Fischbach M, Simkova E, Watson A, Möller K, von Baum H, Warady B
KIDNEY INT. 2007;72(11):1374-1379.

High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.
Schilling A, Mülhausen C, Lehmann W, Santer R, Schinke T, Rueger J, Amling M
OSTEOPOROSIS INT. 2007;18(5):659-669.

Immune responses after single-dose sulphadoxine-pyrimethamine indicate underestimation of protective efficacy of intermittent preventive treatment in infants
Schreiber N, Kobbe R, Adjei S, Adjei O, Klinkert M, May J
TROP MED INT HEALTH. 2007;12(10):1157-63.

[Why 37 degrees C? Evolutionary fundamentals of thermoregulation]
Singer D
ANAESTHESIST. 2007;56(9):899-902, 904-906.

Perinatal adaptation in mammals: the impact of metabolic rate.
Singer D, Mühlfeld C
COMP BIOCHEM PHYS A. 2007;148(4):780-784.

3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.
Stellmer F, Keyser B, Burckhardt B, Koepsell H, Streichert T, Glatzel M, Jabs S, Thiem J, Herdering W, Koeller D, Goodman S, Lukacs Z, Ullrich K, Burckhardt G, Braulke T, Mühlhausen C
J MOL MED. 2007;85(7):763-770.

C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes.
Storch S, Pohl S, Quitsch A, Falley K, Braulke T
TRAFFIC. 2007;8(4):431-444.

Alteration of the insulin-like growth factor axis during in vitro differentiation of the human osteosarcoma cell line HOS 58.
Viereck V, Siggelkow H, Pannem R, Braulke T, Scharf J, Kübler B
J CELL BIOCHEM. 2007;102(1):28-40.

Peritonitis in children who receive long-term peritoneal dialysis: a prospective evaluation of therapeutic guidelines.
Warady B, Feneberg R, Verrina E, Flynn J, Müller-Wiefel D, Besbas N, Zurowska A, Aksu N, Fischbach M, Sojo E, Donmez O, Sever L, Sirin A, Alexander S, Schaefer F
J AM SOC NEPHROL. 2007;18(7):2172-2179.

Blood-brain barrier permeability to the neuroprotectant oxyresveratrol
Breuer C, Wolf G, Andrabi S, Lorenz P, Horn T
NEUROSCI LETT. 2006;393(2-3):113-8.

C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.
Choe C, Schulze-Bahr E, Neu A, Xu J, Zhu Z, Sauter K, Bähring R, Priori S, Guicheney P, Mönnig G, Neapolitano C, Heidemann J, Clancy C, Pongs O, Isbrandt D
HUM MOL GENET. 2006;15(19):2888-2902.

Liver transplantation in children with Alagille syndrome: indications and outcome.
Englert C, Grabhorn E, Burdelski M, Ganschow R
PEDIATR TRANSPLANT. 2006;10(2):154-158.

Diaphragmatic hernia resulting in enterothorax following pediatric liver transplantation: a rare complication.
Englert C, Helmke K, Briem-Richter A, Beckmann M, Rogiers X, Burdelski M, Ganschow R
TRANSPLANTATION. 2006;82(4):574-576.

Presynaptic, activity-dependent modulation of cannabinoid type 1 receptor-mediated inhibition of GABA release
Földy C, Neu A, Jones M, Soltesz I
J NEUROSCI. 2006;26(5):1465-9.

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.
Freisinger P, Fütterer N, Lankes E, Gempel K, Berger T, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker U, Horváth R
ARCH NEUROL-CHICAGO. 2006;63(8):1129-1134.

Bilateral nuclear cataracts as the first neonatal sign of Fanconi-Bickel syndrome.
Furlan F, Santer R, Vismara E, Santus F, Sersale G, Menni F, Parini R
J INHERIT METAB DIS. 2006;29(5):685.

Tacrolimus-induced cholestatic syndrome following pediatric liver transplantation and steroid-resistant graft rejection.
Ganschow R, Albani J, Grabhorn E, Briem-Richter A, Burdelski M
PEDIATR TRANSPLANT. 2006;10(2):220-224.

Neonatal hemochromatosis: long-term experience with favorable outcome.
Grabhorn E, Briem-Richter A, Burdelski M, Rogiers X, Ganschow R
PEDIATRICS. 2006;118(5):2060-2065.

In vitro sulfation of N-acetyllactosaminide by soluble recombinant human beta-Gal-3'-sulfotransferase
Greimel P, Jabs S, Storch S, Cherif S, Honke K, Braulke T, Thiem J
CARBOHYD RES. 2006;341(7):918-24.

Elevated phenylalanine levels interfere with neurite outgrowth stimulated by the neuronal cell adhesion molecule L1 in vitro.
Hartwig C, Gal A, Santer R, Ullrich K, Finckh U, Kreienkamp H
FEBS LETT. 2006;580(14):3489-3492.

Long-term evaluation of cyclosporine and tacrolimus based immunosuppression in pediatric liver transplantation.
Hasenbein W, Albani J, Englert C, Spehr A, Grabhorn E, Kemper M, Burdelski M, Ganschow R
PEDIATR TRANSPLANT. 2006;10(8):938-942.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr J, Santer R, Tesarova M, Zeman J, Udd B, Taylor R, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery P
BRAIN. 2006;129(7):1674-1684.

High prevalence of febrile urinary tract infections after paediatric renal transplantation.
John U, Everding A, Kuwertz-Bröking E, Bulla M, Müller-Wiefel D, Misselwitz J, Kemper M
NEPHROL DIAL TRANSPL. 2006;21(11):3269-3274.

Seasonal variation and high multiplicity of first Plasmodium falciparum infections in children from a holoendemic area in Ghana, West Africa
Kobbe R, Neuhoff R, Marks F, Adjei S, Langefeld I, von Reden C, Adjei O, Meyer C, May J
TROP MED INT HEALTH. 2006;11(5):613-9.

Transplantation of infant en bloc kidneys into paediatric recipients.
Laube G, Kellenberger C, Kemper M, Weber M, Neuhaus T
PEDIATR NEPHROL. 2006;21(3):408-412.

Evaluation of electrospray-tandem mass spectrometry for the detection of phenylketonuria and other rare disorders.
Lukacs Z, Santer R
Mol Nutr Food Res. 2006;50(4-5):443-450.

Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.
Mühlhausen C, Ott N, Chalajour F, Tilki D, Freudenberg F, Shahhossini M, Thiem J, Ullrich K, Braulke T, Ergün S
PEDIATR RES. 2006;59(2):196-202.

A new type of leukoencephalopathy with metaphyseal chondrodysplasia maps to Xq25-q27.
Neubauer B, Stefanova I, Hübner C, Neumaier-Probst E, Bohl J, Oppermann H, Stö H, Hahn A, Stephani U, Kohlschütter A, Gal A
NEUROLOGY. 2006;67(4):587-591.

Body growth after combined liver-kidney transplantation in children with primary hyperoxaluria type 1.
Nissel R, Latta K, Gagnadoux M, Kelly D, Hulton S, Kemper M, Ruder H, Söderdahl G, Otte J, Cochat P, Roquet O, Jamieson N, Haffner D
TRANSPLANTATION. 2006;82(1):48-54.

[Obstructive nephropathy]
Ringert R, Riedmiller H, Rübben H, Rose A, Hoyer P, Conrad S, Hoang-Böhm J, Müller-Wiefel D
UROLOGE. 2006;45(4):225-228.

[The role of the ophthalmologist in the management of juvenile neuronal ceroid lipofuscinosis]
Rüther K, Gal A, Kohlschütter A
KLIN MONATSBL AUGENH. 2006;223(6):542-544.

Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
Sauer S, Okun J, Fricker G, Mahringer A, Müller I, Crnic L, Mühlhausen C, Hoffmann G, Hörster F, Goodman S, Harding C, Koeller D, Kölker S
J NEUROCHEM. 2006;97(3):899-910.

The CLN9 protein, a regulator of dihydroceramide synthase.
Schulz A, Mousallem T, Venkataramani M, Persaud-Sawin D, Zucker A, Luberto C, Bielawska A, Bielawski J, Holthuis J, Jazwinski S, Kozhaya L, Dbaibo G, Boustany R
J BIOL CHEM. 2006;281(5):2784-2794.

[Long-term outcome of preterm neonates: the message behind the statistics]
Singer D
Z GEBURTSH NEONATOL . 2006;210(2):50-59.

Hyperuricemia and gout following pediatric renal transplantation.
Spartà G, Kemper M, Neuhaus T
PEDIATR NEPHROL. 2006;21(12):1884-1888.

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.
Stadler S, Polanetz R, Maier E, Heidenreich S, Niederer B, Mayerhofer P, Lagler F, Koch H, Santer R, Fletcher J, Ranieri E, Das A, Spiekerkötter U, Schwab K, Pötzsch S, Marquardt I, Hennermann J, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau A, Roscher A, Röschinger W
HUM MUTAT. 2006;27(8):748-759.

Percutaneous endoscopic gastrostomy in children on peritoneal dialysis.
von Schnakenburg C, Feneberg R, Plank C, Zimmering M, Arbeiter K, Bald M, Fehrenbach H, Griebel M, Licht C, Konrad M, Timmermann K, Kemper M
PERITON DIALYSIS INT. 2006;26(1):69-77.

A de novo mutation in the AGXT gene causing primary hyperoxaluria type 1.
Williams E, Kemper M, Rumsby G
AM J KIDNEY DIS. 2006;48(3):481-483.

Diagnosis of the neuronal ceroid lipofuscinoses: an update.
Williams R, Aberg L, Autti T, Goebel H, Kohlschütter A, Lönnqvist T
BBA-BIOMEMBRANES. 2006;1762(10):865-872.

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.
Aretz S, Stienen D, Uhlhaas S, Loff S, Back W, Pagenstecher C, McLeod D, Graham G, Mangold E, Santer R, Propping P, Friedl W
HUM MUTAT. 2005;26(6):513-519.

Cumulative incidence rates of the mucopolysaccharidoses in Germany.
Baehner F, Schmiedeskamp C, Krummenauer F, Miebach E, Bajbouj M, Whybra C, Kohlschütter A, Kampmann C, Beck M
J INHERIT METAB DIS. 2005;28(6):1011-1017.

Elements of diabetic nephropathy in a patient with GLUT 2 deficiency.
Berry G, Baynes J, Wells-Knecht K, Szwergold B, Santer R
MOL GENET METAB. 2005;86(4):473-477.

Contribution of N- and C-terminal Kv4.2 channel domains to KChIP interaction [corrected]
Callsen B, Isbrandt D, Sauter K, Hartmann L, Pongs O, Bähring R
J PHYSIOL-LONDON. 2005;568(2):397-412.

No association of histamine- N-methyltransferase polymorphism with asthma or bronchial hyperresponsiveness in two German pediatric populations
Deindl P, Peri-Jerkan S, Deichmann K, Niggemann B, Lau S, Sommerfeld C, Sengler C, Müller S, Wahn U, Nickel R, Heinzmann A
PEDIATR ALLERGY IMMU-UK. 2005;16(1):40-2.

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M
BRAIN. 2005;128(4):723-731.

Hypogammaglobulinemia in pediatric liver transplant recipients.
Ganschow R, Englert C, Grabhorn E, Briem-Richter A, Hinrichs B, Broering D, Rogiers X, Burdelski M
PEDIATR TRANSPLANT. 2005;9(2):215-219.

Long-term results of basiliximab induction immunosuppression in pediatric liver transplant recipients.
Ganschow R, Grabhorn E, Schulz A, Alexander V, Rogiers X, Burdelski M
PEDIATR TRANSPLANT. 2005;9(6):741-745.

Primary hyperoxaluria--the German experience.
Hoppe B, Latta K, von Schnakenburg C, Kemper M
AM J NEPHROL. 2005;25(3):276-281.

Lower force and impaired performance during high-intensity electrical stimulation in skeletal muscle of GAMT-deficient knockout mice.
Kan H, Buse-Pot T, Peco R, Isbrandt D, Heerschap A, de Haan A
AM J PHYSIOL-CELL PH. 2005;289(1):113-119.

Concurrent or sequential liver and kidney transplantation in children with primary hyperoxaluria type 1?
Kemper M, Markus J
PEDIATR TRANSPLANT. 2005;9(6):693-696.

Changes of lymphocyte populations in pediatric steroid-sensitive nephrotic syndrome are more pronounced in remission than in relapse.
Kemper M, Zepf K, Klaassen I, Link A, Müller-Wiefel D
AM J NEPHROL. 2005;25(2):132-137.

Pediatric transplantation: the Hamburg experience.
Kim J, Grotelüschen R, Mueller T, Ganschow R, Bicak T, Wilms C, Mueller L, Helmke K, Burdelski M, Rogiers X, Broering D
TRANSPLANTATION. 2005;79(9):1206-1209.

Editorial
Kobbe R, Marks F, May J, Meyer C
TROP MED INT HEALTH. 2005;10(4):293-4.

Simultaneous determination of HIV antibodies, hepatitis C antibodies, and hepatitis B antigens in dried blood spots--a feasibility study using a multi-analyte immunoassay.
Lukacs Z, Dietrich A, Ganschow R, Kohlschütter A, Kruithof R
CLIN CHEM LAB MED. 2005;43(2):141-145.

The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.
Lukacs Z, Keil A, Kohlschütter A, Beck M, Mengel E
J INHERIT METAB DIS. 2005;28(5):803-805.

Parasitological rebound effect and emergence of pyrimethamine resistance in Plasmodium falciparum after single-dose sulfadoxine-pyrimethamine
Marks F, von Kalckreuth V, Kobbe R, Adjei S, Adjei O, Horstmann R, Meyer C, May J
J INFECT DIS. 2005;192(11):1962-5.

Reduced inotropic reserve and increased susceptibility to cardiac ischemia/reperfusion injury in phosphocreatine-deficient guanidinoacetate-N-methyltransferase-knockout mice.
Michiel T, Lygate C, Fischer A, Schneider J, Sang A, Hulbert K, Sebag-Montefiore L, Watkins H, Clarke K, Isbrandt D, Wallis J, Neubauer S
CIRCULATION. 2005;111(19):2477-2485.

Electron microscopy and microcalorimetry of the postnatal rat heart (Rattus norvegicus).
Mühlfeld C, Singer D, Engelhardt N, Richter J, Schmiedl A
COMP BIOCHEM PHYS A. 2005;141(3):310-318.

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia
Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K, Santer R
J INHERIT METAB DIS. 2005;28(6):945-50.

Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia.
Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K, Santer R
J INHERIT METAB DIS. 2005;28(6):945-950.

Psychosocial impact of living-related kidney transplantation on donors and partners.
Neuhaus T, Wartmann M, Weber M, Landolt M, Laube G, Kemper M
PEDIATR NEPHROL. 2005;20(2):205-209.

Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.
Peters H, Hu H, Pongs O, Storm J, Isbrandt D
NAT NEUROSCI. 2005;8(1):51-60.

Hepatoblastoma in a child with progressive familial intrahepatic cholestasis.
Richter A, Grabhorn E, Briem-Richter A, Schaefer H, Burdelski M, Ganschow R
PEDIATR TRANSPLANT. 2005;9(6):805-808.

Children with steroid-sensitive nephrotic syndrome come of age: long-term outcome.
Rüth E, Kemper M, Leumann E, Laube G, Neuhaus T
J PEDIATR-US. 2005;147(2):202-207.

Hyperchylomicronaemia due to lipoprotein lipase deficiency as a cause of false-positive newborn screening for biotinidase deficiency.
Santer R, Gokçay G, Demirkol M, Gal A, Lukacs Z
J INHERIT METAB DIS. 2005;28(2):137-140.

The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe.
Santer R, Rischewski J, von Weihe M, Niederhaus M, Schneppenheim S, Baerlocher K, Kohlschütter A, Muntau A, Posselt H, Steinmann B, Schneppenheim R
HUM MUTAT. 2005;25(6):594.

Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin.
Siintola E, Topcu M, Kohlschütter A, Salonen T, Joensuu T, Anttonen A, Lehesjoki A
CLIN GENET. 2005;68(2):167-173.

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.
Stephan T, Muschol N, Reutter G, Cantz M, Ullrich K, Braulke T
AM J MED GENET A. 2005;137(3):235-240.

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase
Tiede S, Storch S, Lübke T, Henrissat B, Bargal R, Raas-Rothschild A, Braulke T
NAT MED. 2005;11(10):1109-12.

Biochemical and behavioural phenotyping of a mouse model for GAMT deficiency.
Torremans A, Marescau B, Possemiers I, Debby V, Isbrandt D, Isbrandt D, Paul P
J NEUROL SCI. 2005;231(1-2):49-55.

[Is a reformation of the medical training worthwhile? The quality of the Hamburg curriculum under the old and the new board certification law]
van den Bussche H, Anders S, Ehrhardt M, Göttsche T, Hüneke B, Kohlschütter A, Kothe R, Kuhnigk O, Neuber K, Rijntjes M, Quellmann C, Harendza S
Z Arztl Fortbild Qualitatssich. 2005;99(7):419-423.

A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate.
van Diggelen O, Voznyi Y, Keulemans J, Schoonderwoerd K, Ledvinova J, Mengel E, Zschiesche M, Santer R, Harzer K
J INHERIT METAB DIS. 2005;28(5):733-741.

A novel promoter polymorphism in the gene encoding complement component 5 receptor 1 on chromosome 19q13.3 is not associated with asthma and atopy in three independent populations
Barnes K, Caraballo L, Muñoz M, Zambelli-Weiner A, Ehrlich E, Burki M, Jimenez S, Mathias R, Stockton M, Deindl P, Mendoza L, Hershey G, Nickel R, Wills-Karp M
CLIN EXP ALLERGY. 2004;34(5):736-44.

[Infant botulism and sudden infant death syndrome]
Bartram U, Singer D
KLIN PADIATR. 2004;216(1):26-30.

One hundred thirty-two consecutive pediatric liver transplants without hospital mortality: lessons learned and outlook for the future.
Broering D, Kim J, Mueller T, Fischer L, Ganschow R, Bicak T, Mueller L, Hillert C, Wilms C, Hinrichs B, Helmke K, Pothmann W, Burdelski M, Rogiers X
ANN SURG. 2004;240(6):1002-1012.

Keratin 8 Y54H and G62C mutations are not associated with inflammatory bowel disease
Büning C, Halangk J, Dignass A, Ockenga J, Deindl P, Nickel R, Genschel J, Landt O, Lochs H, Schmidt H, Witt H
DIGEST LIVER DIS. 2004;36(6):388-91.

A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Ensenauer R, Vockley J, Willard J, Huey J, Sass J, Edland S, Burton B, Berry S, Santer R, Grünert S, Koch H, Marquardt I, Rinaldo P, Hahn S, Matern D
AM J HUM GENET. 2004;75(6):1136-1142.

C2 blood concentrations of orally administered cyclosporine in pediatric liver graft recipients with a body weight below 10 kg.
Ganschow R, Richter A, Grabhorn E, Schulz A, von Hugo A, Mir T, Broering D, Rogiers X, Hinrichs B, Burdelski M
PEDIATR TRANSPLANT. 2004;8(2):185-188.

Low-dose immunosuppression reduces the incidence of post-transplant lymphoproliferative disease in pediatric liver graft recipients.
Ganschow R, Schulz T, Meyer T, Broering D, Burdelski M
J PEDIATR GASTR NUTR. 2004;38(2):198-203.

A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency.
Gordon M, Brada N, Remacha A, Badell I, Elisabeth D, Baiget M, Santer R, Quadros E, Rothenberg S, Alpers D
HUM MUTAT. 2004;23(1):85-91.

Short- and long-term results of liver transplantation in infants aged less than 6 months.
Grabhorn E, Schulz A, Helmke K, Hinrichs B, Rogiers X, Broering D, Burdelski M, Ganschow R
TRANSPLANTATION. 2004;78(2):235-241.

Aprataxin mutations are a rare cause of early onset ataxia in Germany.
Habeck M, Zühlke C, Bentele K, Unkelbach S, Kress W, Bürk K, Schwinger E, Hellenbroich Y
J NEUROL. 2004;251(5):591-594.

Recurrence of severe steroid dependency in cyclosporin A-treated childhood idiopathic nephrotic syndrome.
Kemper M, Kuwertz-Broeking E, Bulla M, Müller-Wiefel D, Neuhaus T
NEPHROL DIAL TRANSPL. 2004;19(5):1136-1141.

Split liver transplantation: past, present and future.
Kim J, Broering D, Tustas R, Fischer L, Ganschow R, Burdelski M, Rogiers X
PEDIATR TRANSPLANT. 2004;8(6):644-648.

Animal models for glutaryl-CoA dehydrogenase deficiency
Koeller D, Sauer S, Wajner M, de Mello C, Goodman S, Woontner M, Mühlhausen C, Okun J, Kölker S
J INHERIT METAB DIS. 2004;27(6):813-8.

Catheter visualization with resonant markers at MR imaging-guided deployment of endovascular stents in swine.
Kuehne T, Weiss S, Brinkert F, Weil J, Yilmaz S, Schmitt B, Ewert P, Lange P, Gutberlet M
RADIOLOGY. 2004;233(3):774-780.

Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children
Liu X, Beaty T, Deindl P, Huang S, Lau S, Sommerfeld C, Fallin M, Kao W, Wahn U, Nickel R
J ALLERGY CLIN IMMUN. 2004;113(3):489-95.

Urinary alpha-ketoglutarate is elevated in patients with hyperinsulinism-hyperammonemia syndrome.
Meissner T, Mayatepek E, Kinner M, Santer R
CLIN CHIM ACTA. 2004;341(1-2):23-26.

Vascular dysfunction as an additional pathomechanism in glutaric aciduria type I
Mühlhausen C, Ergün S, Strauss K, Koeller D, Crnic L, Woontner M, Goodman S, Ullrich K, Braulke T
J INHERIT METAB DIS. 2004;27(6):829-34.

Maintenance treatment of glutaryl-CoA dehydrogenase deficiency
Mühlhausen C, Hoffmann G, Strauss K, Kölker S, Okun J, Greenberg C, Naughten E, Ullrich K
J INHERIT METAB DIS. 2004;27(6):885-92.

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Muschol N, Storch S, Ballhausen D, Beesley C, Westermann J, Gal A, Ullrich K, Hopwood J, Winchester B, Braulke T
HUM MUTAT. 2004;23(6):559-566.

BIOKID: randomized controlled trial comparing bicarbonate and lactate buffer in biocompatible peritoneal dialysis solutions in children [ISRCTN81137991].
Nau B, Schmitt C, Almeida M, Arbeiter K, Ardissino G, Bonzel K, Edefonti A, Fischbach M, Haluany K, Misselwitz J, Kemper M, Rönnholm K, Wygoda S, Schaefer F, Group E
BMC NEPHROL. 2004;5:14.

A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
Peduto A, Spada M, Alluto A, La Dolcetta M, Ponzone A, Santer R
J INHERIT METAB DIS. 2004;27(2):279-280.

SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.
Ruf R, Xu P, Silvius D, Otto E, Beekmann F, Muerb U, Kumar S, Neuhaus T, Kemper M, Raymond R, Brophy P, Berkman J, Gattas M, Hyland V, Ruf E, Schwartz C, Chang E, Smith R, Stratakis C, Weil D, Petit C, Hildebrandt F
P NATL ACAD SCI USA. 2004;101(21):8090-8095.

Health-related quality of life and psychosocial adjustment in steroid-sensitive nephrotic syndrome.
Rüth E, Landolt M, Neuhaus T, Kemper M
J PEDIATR-US. 2004;145(6):778-783.

The boy with massive glucosuria.
Sarkissian A, Santer R, Steinmann B, Amaryan G, Leumann E
NEPHROL DIAL TRANSPL. 2004;19(5):1319-1320.

Long-term outcome of renal glucosuria type 0: the original patient and his natural history.
Scholl-Bürgi S, Santer R, Ehrich J
NEPHROL DIAL TRANSPL. 2004;19(9):2394-2396.

Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.
Schulz A, Dhar S, Rylova S, Dbaibo G, Alroy J, Hagel C, Artacho I, Kohlschütter A, Lin S, Boustany R
ANN NEUROL. 2004;56(3):342-350.

Metabolic adaptation to hypoxia: cost and benefit of being small.
Singer D
RESP PHYSIOL NEUROBI. 2004;141(3):215-228.

Latex allergy in children with urological malformation and chronic renal failure.
Spartà G, Kemper M, Gerber A, Goetschel P, Neuhaus T
J UROLOGY. 2004;171(4):1647-1649.

A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) in two siblings with mucolipidosis type III alters a used glycosylation site.
Stephan T, Cantz M, Raas-Rothschild A, Muschol N, Bürger F, Ullrich K, Braulke T
HUM MUTAT. 2004;24(6):535.

A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting
Storch S, Pohl S, Braulke T
J BIOL CHEM. 2004;279(51):53625-34.

Nephrolithiasis in a child with glucose-galactose malabsorption.
Tasic V, Slaveska N, Blau N, Santer R
PEDIATR NEPHROL. 2004;19(2):244-246.

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.
Tsiakas K, Steinfeld R, Storch S, Ezaki J, Lukacs Z, Kominami E, Kohlschütter A, Ullrich K, Braulke T
GLYCOBIOLOGY. 2004;14(4):.

In vivo safe catheter visualization and slice tracking using an optically detunable resonant marker.
Weiss S, Kuehne T, Brinkert F, Krombach G, Katoh M, Schaeffter T, Guenther R, Buecker A
MAGN RESON MED. 2004;52(4):860-868.

[Aseptic meningitis after intrathecal infusion of a parenteral nutrition solution: examples of rare malpositions of central venous catheters in preterm neonates]
Wirbelauer J, Singer D, Darge K, Speer C
Z GEBURTSH NEONATOL . 2004;208(2):63-67.

Neutrophil aggregates in a 13-year-old girl: a rare hematological phenomenon.
Claviez A, Horst H, Santer R, Suttorp M
ANN HEMATOL. 2003;82(4):251-253.

Multicenter evaluation of the performance characteristics of the NucliSens HIV-1 QT assay used for quantitation of human immunodeficiency virus type 1 RNA.
Ginocchio C, Kemper M, Stellrecht K, Witt D
J CLIN MICROBIOL. 2003;41(1):164-173.

Intrauterine regression of an adrenal mass.
Girschick G, Singer D, Trusen A, Dietl J, Müller T
ULTRASOUND OBST GYN. 2003;21(3):307-309.

An 8-year old boy with recurrent macroscopic hematuria, weight loss, and kidney failure.
Kemper M, Bergsträsser E, Pawlik H, Gaspert A, Neuhaus T
J PEDIATR-US. 2003;142(3):342-345.

Combined T- and B-cell activation in childhood steroid-sensitive nephrotic syndrome.
Kemper M, Meyer-Jark T, Lilova M, Müller-Wiefel D
CLIN NEPHROL. 2003;60(4):242-247.

Neuropsychologic side-effects of tacrolimus in pediatric renal transplantation.
Kemper M, Spartà G, Laube G, Miozzari M, Neuhaus T
CLIN TRANSPLANT. 2003;17(2):130-134.

Associations between total serum IgE levels and the 6 potentially functional variants within the genes IL4, IL13, and IL4RA in German children
Liu X, Beaty T, Deindl P, Huang S, Lau S, Sommerfeld C, Fallin M, Kao W, Wahn U, Nickel R
J ALLERGY CLIN IMMUN. 2003;112(2):382-8.

Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity
Mühlhausen C, Christensen E, Schwartz M, Muschol N, Ullrich K, Lukacs Z
J INHERIT METAB DIS. 2003;26(7):713-4.

Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.
Mühlhausen C, Christensen E, Schwartz M, Muschol N, Ullrich K, Lukacs Z
J INHERIT METAB DIS. 2003;26(7):713-714.

Severe acute abdominal pain in idiopathic nephrotic syndrome.
Neuhaus T, Kemper M
PEDIATR NEPHROL. 2003;18(3):304.

A replacement of the active-site aspartic acid residue 293 in mouse cathepsin D affects its intracellular stability, processing and transport in HEK-293 cells.
Partanen S, Storch S, Löffler H, Hasilik A, Tyynelä J, Braulke T
BIOCHEM J. 2003;369(1):55-62.

Tandem mass spectrometric determination of malonylcarnitine: diagnosis and neonatal screening of malonyl-CoA decarboxylase deficiency.
Santer R, Fingerhut R, Lässker U, Wightman P, Fitzpatrick D, Olgemöller B, Roscher A
CLIN CHEM. 2003;49(4):660-662.

Intestinal glucose transport: evidence for a membrane traffic-based pathway in humans.
Santer R, Hillebrand G, Steinmann B, Schaub J
GASTROENTEROLOGY. 2003;124(1):34-39.

Molecular analysis of the SGLT2 gene in patients with renal glucosuria.
Santer R, Kinner M, Lassen C, Schneppenheim R, Eggert P, Bald M, Brodehl J, Daschner M, Ehrich J, Kemper M, Salvatore L, Neuhaus T, Skovby F, Swift P, Schaub J, Klaerke D
J AM SOC NEPHROL. 2003;14(11):2873-2882.

Partial response to biotin therapy in a patient with holocarboxylase synthetase deficiency: clinical, biochemical, and molecular genetic aspects.
Santer R, Muhle H, Suormala T, Baumgartner E, Duran M, Yang X, Aoki Y, Suzuki Y, Stephani U
MOL GENET METAB. 2003;79(3):160-166.

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.
Schneppenheim R, Ulrich B, Oyen F, Angerhaus D, Aumann V, Drewke E, Hassenpflug W, Häberle J, Kentouche K, Kohne E, Kurnik K, Müller-Wiefel D, Obser T, Santer R, Sykora K
BLOOD. 2003;101(5):1845-1850.

Pacemaker channel dysfunction in a patient with sinus node disease
Schulze-Bahr E, Neu A, Friederich P, Kaupp U, Breithardt G, Pongs O, Isbrandt D
J CLIN INVEST. 2003;111(10):1537-45.

Mutational analysis in longest known survivor of mucopolysaccharidosis type VII.
Storch S, Wittenstein B, Islam R, Ullrich K, Sly W, Braulke T
HUM GENET. 2003;112(2):190-194.

Basiliximab monotherapy following B-cell lymphoma after pediatric liver transplantation and anti-CD20 therapy.
Venzke A, Ganschow R, Grabhorn E, Rogiers X, Burdelski M
PEDIATR TRANSPLANT. 2003;7(5):404-407.

Genetic analysis: a diagnostic tool for primary hyperoxaluria type 1.
von Schnakenburg C, Rumsby G, Hoppe B, Latta K, Kemper M
PEDIATR NEPHROL. 2003;18(5):482-484.

[An approach for safe visualization and localization of catheter during MR-guided intravascular procedures]
Weiss S, Schaeffter T, Brinkert F, Kühne T, Bücker A
Z MED PHYS. 2003;13(3):172-176.

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.
Wightman P, Santer R, Ribes A, Dougherty F, McGill N, Thorburn D, FitzPatrick D
HUM MUTAT. 2003;22(4):288-300.

High-flavonol tomatoes resulting from the heterologous expression of the maize transcription factor genes LC and C1.
Bovy A, de Vos R, Kemper M, Schijlen E, Maria A, Muir S, Collins G, Robinson S, Verhoeyen M, Hughes S, Santos-Buelga C, van Tunen A
PLANT CELL. 2002;14(10):2509-2526.

Comparative yield of HCV RNA testing in blood donors screened by 2.0 versus 3.0 antibody assays.
Galel S, Strong D, Tegtmeier G, Holland P, Kuramoto I, Kemper M, Pietrelli L, Gallarda J
TRANSFUSION. 2002;42(11):1507-1513.

Cholelithiasis in pediatric organ transplantation: detection and management.
Ganschow R
PEDIATR TRANSPLANT. 2002;6(2):91-96.

The oxidative metabolism of polymorphonuclear neutrophils in pediatric liver graft recipients.
Ganschow R, Albani J, Rogiers X, Burdelski M
CLIN TRANSPLANT. 2002;16(3):185-190.

Cardiac failure in an infant with Chediak-Higashi syndrome: a hypothesis of the effect of diadenosine polyphosphates.
Ganschow R, Grabhorn E, Lemke J, Lepler R
PEDIATR ALLERGY IMMU-UK. 2002;13(4):307-310.

Low incidence of posttransplant lymphoproliferative disease in children treated with low-dose immunosuppression after liver transplantation.
Ganschow R, Schulz T, Meyer T, Broering D, Burdelski M
TRANSPL P. 2002;34(5):1961-1962.

Liver transplantation in infants: how much immunosuppression is needed?
Ganschow R, Venzke A, Grabhorn E, Broering D, Rogiers X, Burdelski M
TRANSPL P. 2002;34(5):1963.

Liver transplantation in infants younger than 6 months old.
Grabhorn E, Ganschow R, Helmke K, Rogiers X, Burdelski M
TRANSPL P. 2002;34(5):1964-1965.

Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
Kalatzis V, Cohen-Solal L, Cordier B, Frishberg Y, Kemper M, Nuutinen E, Legrand E, Cochat P, Antignac C
HUM MUTAT. 2002;20(6):439-446.

Serum levels of immunoglobulins and IgG subclasses in steroid sensitive nephrotic syndrome.
Kemper M, Altrogge H, Ganschow R, Müller-Wiefel D
PEDIATR NEPHROL. 2002;17(6):413-417.

The child with initially refractory skin infection after renal transplantation.
Kemper M, Laube G, Blasius M, Neuhaus T
NEPHROL DIAL TRANSPL. 2002;17(5):927-928.

Influence of family structure on course of steroid-sensitive nephrotic syndrome.
Kemper M, Neuhaus T
PEDIATR NEPHROL. 2002;17(11):974.

Tetrahydrobiopterin responsiveness in phenylketonuria. Two new cases and a review of molecular genetic findings.
Lässker U, Zschocke J, Blau N, Santer R
J INHERIT METAB DIS. 2002;25(1):65-70.

Escherichia coli O157 fails to induce a long-lasting lipopolysaccharide-specific, measurable humoral immune response in children with hemolytic-uremic syndrome.
Ludwig K, Bitzan M, Bobrowski C, Müller-Wiefel D
J INFECT DIS. 2002;186(4):566-569.

Saliva IgM and IgA are a sensitive indicator of the humoral immune response to Escherichia coli O157 lipopolysaccharide in children with enteropathic hemolytic uremic syndrome.
Ludwig K, Grabhorn E, Bitzan M, Bobrowski C, Kemper M, Sobottka I, Laufs R, Karch H, Müller-Wiefel D
PEDIATR RES. 2002;52(2):307-313.

Shiga toxin-producing Escherichia coli infection and antibodies against Stx2 and Stx1 in household contacts of children with enteropathic hemolytic-uremic syndrome.
Ludwig K, Sarkim V, Bitzan M, Karmali M, Bobrowski C, Ruder H, Laufs R, Sobottka I, Petric M, Karch H, Müller-Wiefel D
J CLIN MICROBIOL. 2002;40(5):1773-1782.

Secretion of phosphomannosyl-deficient arylsulphatase A and cathepsin D from isolated human macrophages.
Muschol N, Matzner U, Stephan T, Gieselmann V, Ullrich K, Braulke T
BIOCHEM J. 2002;368(3):845-853.

Activation of GABA(A) receptors by guanidinoacetate
Neu A, Neuhoff H, Trube G, Fehr S, Ullrich K, Roeper J, Isbrandt D
NEUROBIOL DIS. 2002;11(2):298-307.

I(h) channels contribute to the different functional properties of identified dopaminergic subpopulations in the midbrain
Neuhoff H, Neu A, Liss B, Roeper J
J NEUROSCI. 2002;22(4):1290-302.

A secondary respiratory chain defect in a patient with Fanconi-Bickel syndrome.
Odièvre M, Lombès A, Dessemme P, Santer R, Brivet M, Chevallier B, Lagardère B, Odièvre M
J INHERIT METAB DIS. 2002;25(5):379-384.

The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
Santer R, Groth S, Kinner M, Dombrowski A, Berry G, Brodehl J, Leonard J, Moses S, Norgren S, Skovby F, Schneppenheim R, Steinmann B, Schaub J
HUM GENET. 2002;110(1):21-29.

Fanconi-Bickel syndrome--a congenital defect of facilitative glucose transport.
Santer R, Steinmann B, Schaub J
CURR MOL MED. 2002;2(2):213-227.

Assessment of cardiac output, intravascular volume status, and extravascular lung water by transpulmonary indicator dilution in critically ill neonates and infants.
Schiffmann H, Erdlenbruch B, Singer D, Singer S, Herting E, Hoeft A, Buhre W
J CARDIOTHOR VASC AN. 2002;16(5):592-597.

Long-term survival after radical operations for cancer treatment-induced sarcomas: how two survivors invite reflection on oncologic treatment concepts.
Schwarz R, Hillebrand G, Peralta E, Chu D, Weiss L
AM J CLIN ONCOL-CANC. 2002;25(3):244-247.

[Universal newborn hearing screening program in Würzburg. Experience with more than 4000 newborns and the influence of non-pathological factors on the test results]
Shehata-Dieler W, Dieler R, Wenzel G, Keim R, Singer D, von Deuster C
LARYNGORHINOOTOLOGIE. 2002;81(3):204-210.

Feeding patterns in breast-fed and formula-fed infants.
Sievers E, Oldigs H, Santer R, Schaub J
ANN NUTR METAB. 2002;46(6):243-248.

[Phylogeny of Mammalian metabolism]
Singer D
ANASTH INTENSIV NOTF. 2002;37(8):441-460.

Type I IgE receptor, interleukin 4 receptor and interleukin 13 polymorphisms in children with nephrotic syndrome.
Tenbrock K, Schubert A, Stapenhorst L, Kemper M, Gellermann J, Timmermann K, Müller-Wiefel D, Querfeld U, Hoppe B, Michalk D
CLIN SCI. 2002;102(5):507-512.

Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts.
Valianpour F, Wanders R, Overmars H, Vreken P, Gennip V, Albert H, Baas F, Santer R, Santer R, Becker K, Barth P
J PEDIATR-US. 2002;141(5):729-733.

Asymptomatic intracardiac thrombus in steroid-sensitive nephrotic syndrome.
Weisz W, Kemper M, Weil J, Müller-Wiefel D
PEDIATR NEPHROL. 2002;17(4):287-289.

Depressed oxidative metabolism of polymorphonuclear neutrophils after pediatric liver transplantation.
Albani J, Ganschow R, Rogiers X, Burdelski M
TRANSPL P. 2001;33(1-2):1728-1729.

[Diagnosis of congenital dilatation of the urinary tract. Consensus Group of the Pediatric Nephrology Working Society in cooperation with the Pediatric Urology Working Group of the German Society of Urology and with the Pediatric Urology Working Society in the Germany Society of Pediatric Surgery].
Beetz R, Bökenkamp A, Brandis M, Hoyer P, John U, Kemper M, Kirschstein M, Kuwertz-Bröking E, Misselwitz J, Müller-Wiefel D, Rascher W
UROLOGE. 2001;40(6):495-499.

Bone mineral density in children with primary hyperoxaluria type I.
Behnke B, Kemper M, Kruse H, Müller-Wiefel D
NEPHROL DIAL TRANSPL. 2001;16(11):2236-2239.

Oral mature teratoma containing epididymal tissue in a female neonate.
Beutel K, Partsch C, Jänig U, Nikischin W, Suttorp M
LANCET. 2001;357(9252):283-284.

Laboratory signs of activated coagulation are common in Henoch-Schönlein purpura.
Brendel-Müller K, Hahn A, Schneppenheim R, Santer R
PEDIATR NEPHROL. 2001;16(12):1084-1088.

Is there still a need for living-related liver transplantation in children?
Broering D, Mueller L, Ganschow R, Kim J, Achilles E, Schäfer H, Gundlach M, Fischer L, Sterneck M, Hillert C, Helmke K, Izbicki J, Burdelski M, Rogiers X
ANN SURG. 2001;234(6):712-713.

Th2 cytokine profile in infants predisposes to improved graft acceptance after liver transplantation.
Ganschow R, Broering D, Nolkemper D, Albani J, Kemper M, Rogiers X, Burdelski M
TRANSPLANTATION. 2001;72(5):929-934.

First experience with basiliximab in pediatric liver graft recipients.
Ganschow R, Broering D, Stuerenburg I, Rogiers X, Hellwege H, Burdelski M
PEDIATR TRANSPLANT. 2001;5(5):353-358.

Basiliximab in paediatric liver-transplant recipients.
Ganschow R, Grabhorn E, Burdelski M
LANCET. 2001;357(9253):388.

Liver transplantation in children with Alagille syndrome.
Ganschow R, Grabhorn E, Helmke K, Rogiers X, Burdelski M
TRANSPL P. 2001;33(7-8):3608-3609.

Experience with basiliximab in pediatric liver graft recipients.
Ganschow R, Lyons M, Grabhorn E, Venzke A, Broering D, Rogiers X, Hellwege H, Burdelski M
TRANSPL P. 2001;33(7-8):3606-3607.

B-cell dysfunction and depletion using mycophenolate mofetil in a pediatric combined liver and kidney graft recipient.
Ganschow R, Lyons M, Kemper M, Burdelski M
PEDIATR TRANSPLANT. 2001;5(1):60-63.

Long-chain polyunsaturated fatty acids (LC-PUFA) during early development: contribution of milk LC-PUFA to accretion rates varies among organs.
Hamosh M, Henderson T, Kemper M, Orr N, Gil A, Hamosh P
ADV EXP MED BIOL. 2001;501:397-401.

New LightCycler PCR for rapid and sensitive quantification of parvovirus B19 DNA guides therapeutic decision-making in relapsing infections.
Harder T, Hufnagel M, Zahn K, Beutel K, Schmitt H, Ullmann U, Rautenberg P
J CLIN MICROBIOL. 2001;39(12):4413-4419.

Combined liver-kidney transplantation for primary hyperoxaluria type 1.
Kemper M, Burdelski M, Müller-Wiefel D
NEPHROL DIAL TRANSPL. 2001;16(10):2113-2114.

Renal function in congenital anomalies of the kidney and urinary tract.
Kemper M, Müller-Wiefel D
CURR OPIN UROL. 2001;11(6):571-575.

Antenatal oligohydramnios of renal origin: postnatal therapeutic and prognostic challenges.
Kemper M, Neuhaus T, Timmermann K, Hüneke B, Laube G, Harps E, Mueller-Wiefel D
CLIN NEPHROL. 2001;56(6):9-12.

Transmission of glomerular permeability factor from a mother to her child.
Kemper M, Wolf G, Müller-Wiefel D
NEW ENGL J MED. 2001;344(5):386-387.

Antibody response to Shiga toxins Stx2 and Stx1 in children with enteropathic hemolytic-uremic syndrome.
Ludwig K, Karmali M, Sarkim V, Bobrowski C, Petric M, Karch H, Müller-Wiefel D
J CLIN MICROBIOL. 2001;39(6):2272-2279.

Hyperinsulinism in syndromal disorders.
Meissner T, Rabl W, Mohnike K, Scholl S, Santer R, Mayatepek E
ACTA PAEDIATR. 2001;90(8):856-859.

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome.
Santer R, Kinner M, Passarge M, Superti-Furga A, Mayatepek E, Meissner T, Schneppenheim R, Schaub J
HUM GENET. 2001;108(1):66-71.

Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, Shaiu W, Chen Y, Schneppenheim R, Schaub J
EUR J HUM GENET. 2001;9(5):388-391.

Extrahilar mesenterico-left portal shunt for portal vein thrombosis after liver transplantation.
Stenger A, Broering D, Gundlach M, Bloechle C, Ganschow R, Helmke K, Izbicki J, Burdelski M, Rogiers X
TRANSPL P. 2001;33(1-2):1739-1741.

Multiple C-terminal motifs of the 46-kDa mannose 6-phosphate receptor tail contribute to efficient binding of medium chains of AP-2 and AP-3.
Storch S, Braulke T
J BIOL CHEM. 2001;276(6):4298-4303.

Transferrin binds insulin-like growth factors and affects binding properties of insulin-like growth factor binding protein-3.
Storch S, Kübler B, Höning S, Ackmann M, Zapf J, Blum W, Braulke T
FEBS LETT. 2001;509(3):395-398.

Epidermal naevus and segmental hypermelanosis associated with an intraspinal mass: overlap between different mosaic neuroectodermal syndromes.
Zakrzewski J, Luecke T, Bentele K, Hoeger P
EUR J PEDIATR. 2001;160(10):603-606.

Nosocomial outbreak of vancomycin-resistant Enterococcus faecium at a German university pediatric hospital.
Elsner H, Sobottka I, Feucht H, Harps E, Haun C, Mack D, Ganschow R, Laufs R, Kaulfers P
INT J HYG ENVIR HEAL. 2000;203(2):147-152.

Single-cell mRNA expression of HCN1 correlates with a fast gating phenotype of hyperpolarization-activated cyclic nucleotide-gated ion channels (Ih) in central neurons
Franz O, Liss B, Neu A, Roeper J
EUR J NEUROSCI. 2000;12(8):2685-93.

Interleukin-1 receptor antagonist in ascites indicates acute graft rejection after pediatric liver transplantation.
Ganschow R, Baade B, Hellwege H, Broering D, Rogiers X, Burdelski M
PEDIATR TRANSPLANT. 2000;4(4):289-292.

Intensive care management after pediatric liver transplantation: a single-center experience.
Ganschow R, Nolkemper D, Helmke K, Harps E, Commentz J, Broering D, Pothmann W, Rogiers X, Hellwege H, Burdelski M
PEDIATR TRANSPLANT. 2000;4(4):273-279.

Hereditary fructose intolerance and alpha(1) antitrypsin deficiency
Hillebrand G, Schneppenheim R, Oldigs H, Santer R
Archives of disease in childhood. 2000;83(1):72-3.

DiGeorge syndrome with discordant phenotype in monozygotic twins.
Hillebrand G, Siebert R, Simeoni E, Santer R
J MED GENET. 2000;37(9):23.

Staphylococcal septicemia in children with atopic dermatitis.
Hoeger P, Ganschow R, Finger G
PEDIATR DERMATOL. 2000;17(2):111-114.

Unfavorable response to cyclophosphamide in steroid-dependent nephrotic syndrome.
Kemper M, Altrogge H, Ludwig K, Timmermann K, Müller-Wiefel D
PEDIATR NEPHROL. 2000;14(8-9):772-775.

The child with haematuria and dysphagia.
Kemper M, Ganschow R, Helmke K, Muller-Wiefel D
NEPHROL DIAL TRANSPL. 2000;15(10):1694-1695.

Long-term results of pre-emptive liver transplantation in primary hyperoxaluria type 1.
Nolkemper D, Kemper M, Burdelski M, Vaismann I, Rogiers X, Broelsch C, Ganschow R, Müller-Wiefel D
PEDIATR TRANSPLANT. 2000;4(3):177-181.

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.
Santer R, Rischewski J, Block G, Kinner M, Wendel U, Schaub J, Schneppenheim R
HUM MUTAT. 2000;16(2):177.

Selective effect of tumor necrosis factor on transformed versus nontransformed cells: nonselective signal recognition but differential target cell response.
Schulz A, Bauer G
ANTICANCER RES. 2000;20(5):3435-3442.

Synergistic action between tumor necrosis factor-alpha and transforming growth factor type-beta: consequences for natural antitumor mechanisms.
Schulz A, Bauer G
ANTICANCER RES. 2000;20(5):3443-3448.

[Rediscovery of therapeutic hypothermia for newborn infants]
Singer D
Z GEBURTSH NEONATOL . 2000;204(2):41.

[Advantages of water filtered over conventional infrared irradiation in neonatology]
Singer D, Schröder M, Harms K
Z GEBURTSH NEONATOL . 2000;204(3):85-92.

Liver transplantation in children: long-term outcome and quality of life.
Burdelski M, Nolkemper D, Ganschow R, Sturm E, Malago M, Rogiers X, Brölsch C
EUR J PEDIATR. 1999;158(2):34-42.

Treatment of hyperinsulinaemic hypoglycaemia with nifedipine.
Eichmann D, Hufnagel M, Quick P, Santer R
EUR J PEDIATR. 1999;158(3):204-206.

Influence of Th1 and Th2 cytokine patterns on graft acceptance in pediatric liver transplantation.
Ganschow R, Nolkemper D, Hoffmann T, Gieseking J, Rogiers X, Broelsch C, Burdelski M
TRANSPL P. 1999;31(1-2):465-466.

Tubulointerstitial nephritis and uveitis in association with Epstein-Barr virus infection.
Grefer J, Santer R, Ankermann T, Faul S, Nölle B, Eggert P
PEDIATR NEPHROL. 1999;13(4):336-339.

Plasma calcium oxalate supersaturation in children with primary hyperoxaluria and end-stage renal failure.
Hoppe B, Kemper M, Bökenkamp A, Portale A, Cohn R, Langman C
KIDNEY INT. 1999;56(1):268-274.

Effect of DDAVP on nocturnal enuresis in a patient with nephrogenic diabetes insipidus.
Jonat S, Santer R, Schneppenheim R, Obser T, Eggert P
ARCH DIS CHILD. 1999;81(1):57-59.

Some hypothalamic hamartomas contain transforming growth factor alpha, a puberty-inducing growth factor, but not luteinizing hormone-releasing hormone neurons.
Jung H, Carmel P, Schwartz M, Witkin J, Bentele K, Westphal M, Piatt J, Costa M, Cornea A, Ma Y, Ojeda S
J CLIN ENDOCR METAB. 1999;84(12):4695-4701.

Iron homeostasis in relapsing steroid-sensitive nephrotic syndrome of childhood.
Kemper M, Bello A, Altrogge H, Timmermann K, Ludwig K, Müller-Wiefel D
CLIN NEPHROL. 1999;52(1):25-29.

The weaver mouse gain-of-function phenotype of dopaminergic midbrain neurons is determined by coactivation of wvGirk2 and K-ATP channels
Liss B, Neu A, Roeper J
J NEUROSCI. 1999;19(20):8839-48.

Retroviral vectors pseudotyped with lymphocytic choriomeningitis virus.
Miletic H, Bruns M, Tsiakas K, Vogt B, Rezai R, Baum C, Kühlke K, Cosset F, Ostertag W, Lother H, von Laer D
J VIROL. 1999;73(7):6114-6116.

Celiac disease and selective IgA deficiency in a girl with atypical Turner syndrome.
Schewior S, Brand M, Santer R
J PEDIATR GASTR NUTR. 1999;28(3):353-354.

Determination of airway humidification in high-frequency oscillatory ventilation using an artificial neonatal lung model. Comparison of a heated humidifier and a heat and moisture exchanger.
Schiffmann H, Singer S, Singer D, von Richthofen E, Rathgeber J, Züchner K
INTENS CARE MED. 1999;25(9):997-1002.

Neonatal tolerance to hypoxia: a comparative-physiological approach.
Singer D
COMP BIOCHEM PHYS A. 1999;123(3):221-234.

Hepatic thrombopoietin mRNA levels in acute and chronic liver failure of childhood.
Wolber E, Ganschow R, Burdelski M, Jelkmann W
HEPATOLOGY. 1999;29(6):1739-1742.

Bone alkaline phosphatase in children with chronic renal failure.
Behnke B, Kemper M, Kruse H, Müller-Wiefel D
NEPHROL DIAL TRANSPL. 1998;13(3):662-667.

[Thermoregulation and anesthesia]
Bräuer A, Perl T, Singer D
ANASTH INTENSIV NOTF. 1998;33(6):383-386.

Cloning and functional expression of rat ether-à-go-go-like K+ channel genes
Engeland B, Neu A, Ludwig J, Roeper J, Pongs O
J PHYSIOL-LONDON. 1998;513 ( Pt 3):647-54.

Plasma calcium-oxalate saturation in children with renal insufficiency and in children with primary hyperoxaluria.
Hoppe B, Kemper M, Bökenkamp A, Langman C
KIDNEY INT. 1998;54(3):921-925.

Simultaneous determination of oxalate, citrate and sulfate in children's plasma with ion chromatography.
Hoppe B, Kemper M, Hvizd M, Sailer D, Langman C
KIDNEY INT. 1998;53(5):1348-1352.

Further evidence for a dominant form of familial persistent hyperinsulinemic hypoglycemia of infancy: a family with documented hyperinsulinemia in two generations.
Hufnagel M, Eichmann D, Stieh J, Santer R
J CLIN ENDOCR METAB. 1998;83(6):2215-2216.

[The treatment with levamisole of frequently recurring steroid-sensitive idiopathic nephrotic syndrome in children]
Kemper M, Amon O, Timmermann K, Altrogge H, Müller-Wiefel D
DEUT MED WOCHENSCHR. 1998;123(9):239-243.

Preemptive liver transplantation in primary hyperoxaluria type 1: timing and preliminary results.
Kemper M, Nolkemper D, Rogiers X, Timmermann K, Sturm E, Malago M, Broelsch C, Burdelski M, Müller-Wiefel D
J NEPHROL. 1998;11(1):46-48.

Differential regulation of the clusterin gene by Ha-ras and c-myc oncogenes and during apoptosis.
Klock G, Storch S, Rickert J, Gutacker C, Koch-Brandt C
J CELL PHYSIOL. 1998;177(4):593-605.

Treatment and long-term outcome of pineal nongerminomatous germ cell tumors.
Knappe U, Bentele K, Horstmann M, Herrmann H
PEDIATR NEUROSURG. 1998;28(5):241-245.

Fanconi-Bickel syndrome--a congenital defect of the liver-type facilitative glucose transporter. SSIEM Award. Society for the Study of Inborn Errors of Metabolism.
Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J
J INHERIT METAB DIS. 1998;21(3):191-194.

Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.
Santer R, Schneppenheim R, Suter D, Schaub J, Steinmann B
EUR J PEDIATR. 1998;157(10):783-797.

Outbreak of systemic aspergillosis in a neonatal intensive care unit.
Singer S, Singer D, Rüchel R, Mergeryan H, Schmidt U, Harms K
MYCOSES. 1998;41(5-6):223-227.

Novel COL4A5/COL4A6 deletions and further characterization of the diffuse leiomyomatosis-Alport syndrome (DL-AS) locus define the DL critical region.
Heidet L, Cohen-Solal L, Boye E, Thorner P, Kemper M, David A, Larget Piet L, Zhou J, Flinter F, Zhang X, Gubler M, Antignac C
Cytogenet Cell Genet. 1997;78(3-4):240-246.

Disseminated islands of gastric mucosa in jejunum and ileum detected by technetium-99m-pertechnetate scintigraphy.
Heinrichs V, Kemper M, Burdelski M, Kluth D, Mueller-Wiefel D, Schaefer H, Luebeck M
J NUCL MED. 1997;38(5):818-820.

[Bilharziasis as the etiology in hematuria and proteinuria in childhood].
Kemper M, Altrogge H, Amon O, Müller-Wiefel D
KLIN PADIATR. 1997;209(6):373-376.

Primary hyperoxaluria type 2.
Kemper M, Conrad S, Müller-Wiefel D
EUR J PEDIATR. 1997;156(7):509-512.

IgG2 deficiency in uremic children is not restricted to peritoneal dialysis treatment.
Kemper M, Meyer-Jark T, Müller-Wiefel D
PEDIATR NEPHROL. 1997;11(6):684-686.

Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.
Müller D, Santer R, Krawinkel M, Christiansen B, Schaub J
J INHERIT METAB DIS. 1997;20(4):607-608.

Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome.
Santer R, Schneppenheim R, Dombrowski A, Götze H, Steinmann B, Schaub J
NAT GENET. 1997;17(3):324-326.

Airway humidification in mechanically ventilated neonates and infants: a comparative study of a heat and moisture exchanger vs. a heated humidifier using a new fast-response capacitive humidity sensor.
Schiffmann H, Rathgeber J, Singer D, Harms K, Bolli A, Züchner K
CRIT CARE MED. 1997;25(10):1755-1760.

A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and evolutionary consideration.
Tanaka K, Gregersen N, Ribes A, Kim J, Kølvraa S, Winter V, Eiberg H, Martinez G, Deufel T, Leifert B, Santer R, François B, Pronicka E, László A, Kmoch S, Kremensky I, Kalaydjicva L, Ozalp I, Ito M
PEDIATR RES. 1997;41(2):201-209.

High energy phosphates and direct calorimetry as predictive parameters for metabolic recovery of the rat liver following ischemia.
Bach F, Singer D, Schmiedl A, Bauer M, Larsen R
ACTA ANAESTH SCAND. 1996;40(8 Pt 1):940-947.

Microcalorimetric measurements carried out on isolated tumorous and nontumorous tissue samples from organs in the urogenital tract in comparison to histological and impulse-cytophotometric investigations.
Kallerhoff M, Karnebogen M, Singer D, Dettenbach A, Gralher U, Ringert R
UROL RES. 1996;24(2):83-91.

Effective treatment of acute hyperkalaemia in childhood by short-term infusion of salbutamol.
Kemper M, Harps E, Hellwege H, Müller-Wiefel D
EUR J PEDIATR. 1996;155(6):495-497.

Hyperkalemia: therapeutic options in acute and chronic renal failure.
Kemper M, Harps E, Müller-Wiefel D
CLIN NEPHROL. 1996;46(1):67-69.

Nephrocalcinosis in a patient with primary hyperoxaluria type 2.
Kemper M, Müller-Wiefel D
PEDIATR NEPHROL. 1996;10(4):442-444.

Transplantation procedures in primary hyperoxaluria type 1.
Latta A, Müller-Wiefel D, Sturm E, Kemper M, Burdelski M, Broelsch C
CLIN NEPHROL. 1996;46(1):21-23.

Williams-Beuren syndrome and celiac disease.
Santer R, Pankau R, Schaub J, Bürgin-Wolff A
J PEDIATR GASTR NUTR. 1996;23(3):339-340.

Cerebrospinal fluid concentrations of leukotriene B4 in bacterial meningitis.
Santer R, Sievers E, Schaub J
ACTA PAEDIATR. 1996;85(8):902-905.

A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia.
Wiebusch H, Funke H, Santer R, Richter W, Assmann G
HUM MUTAT. 1996;8(4):392.

[Traumatic dislocations of the cranial spine in childhood. Clinical description of 2 cases].
Dallek M, Meenen N, Jungbluth K, Bentele K, Grzyska U
Unfallchirurgie. 1995;21(1):40-44.

[First aid and resuscitation of newborn infants--techniques, indications and risks]
Ritzerfeld S, Singer D, Speer C
Z GEBURTSH NEONATOL . 1995;199(5):199-202.

Decreased activity of respiratory-chain enzymes in glutaric aciduria type II.
Santer R, Claass A, Krawinkel M, Schaub J, Ruitenbeek W
J INHERIT METAB DIS. 1995;18(1):75-76.

The prevalence of the G985 allele of medium-chain acyl-CoA dehydrogenase deficiency among sudden infant death victims and healthy newborns in northern Germany.
Santer R, Gregersen N, Tanaka K, Hinck-Kneip C, Krawinkel M, Schaub J
EUR J PEDIATR. 1995;154(6):497.

Discordance for hyperinsulinemic hypoglycemia in monozygotic twins.
Santer R, Hoffmann H, Suttorp M, Simeoni E, Schaub J
J PEDIATR-US. 1995;126(6):1017.

Submental and diaphragmatic muscle activity during and at resolution of mixed and obstructive apneas and cardiorespiratory arousal in preterm infants.
Wulbrand H, Von Zezschwitz G, Bentele K
PEDIATR RES. 1995;38(3):298-305.

Increased need of erythropoietin during peritonitis in children on continuous peritoneal dialysis.
Amon O, Altrogge H, Kemper M, Strehlau J, Müller-Wiefel D
Adv Perit Dial. 1994;10:318-320.

Population screening for medium-chain acyl-CoA dehydrogenase deficiency: analysis of medium-chain fatty acids and acylglycines in blood spots.
Bennett M, Ragni M, Ostfeld R, Santer R, Schmidt-Sommerfeld E
ANN CLIN BIOCHEM. 1994;31(1):72-77.

Serum levels of sCD23 and sCD25 in children with asthma and in healthy controls.
Hoeger P, Niggemann B, Ganschow R, Dammann C, Haeuser G
ALLERGY. 1994;49(4):217-221.

Association of malonyl-CoA decarboxylase deficiency and heterozygote state for haemoglobin C disease.
Krawinkel M, Oldigs H, Santer R, Lehnert W, Wendel U, Schaub J
J INHERIT METAB DIS. 1994;17(5):636-637.

Ursodesoxycholic acid: effect on xanthomas in Alagille-Watson syndrome.
Krawinkel M, Santer R, Oldigs H
J PEDIATR GASTR NUTR. 1994;19(4):476-477.

Hypothalamic hamartomas: with special reference to gelastic epilepsy and surgery.
Valdueza J, Cristante L, Dammann O, Bentele K, Vortmeyer A, Saeger W, Padberg B, Freitag J, Herrmann H
NEUROSURGERY. 1994;34(6):949-958.

[Williams-Beuren syndrome in combination with celiac disease]
Pankau R, Partsch C, Gosch A, Santer R
MONATSSCHR KINDERH. 1993;141(7):577-580.

Urinary excretion of epidermal growth factor and transforming growth factor-alpha in breast-fed and formula-fed infants.
Santer R, Borlinghaus P, Sievers E, Segura E, Lamerz R
ACTA PAEDIATR. 1993;82(12):1024-1028.

Isolated defect of peroxisomal beta-oxidation in a 16-year-old patient.
Santer R, Claviez A, Oldigs H, Schaub J, Schutgens R, Wanders R
EUR J PEDIATR. 1993;152(4):339-342.

Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method.
Schmidt-Sommerfeld E, Penn D, Duran M, Bennett M, Santer R, Stanley C
J PEDIATR-US. 1993;122(5 Pt 1):708-714.

Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation.
Schmidt-Sommerfeld E, Penn D, Duran M, Rinaldo P, Bennett M, Santer R, Stanley C
Prog Clin Biol Res. 1992;375:355-362.

[Gelastic epilepsy and precocious puberty in hamartoma of the hypothalamus].
Dammann O, Commentz J, Valdueza J, Christante L, Bentele K
KLIN PADIATR. 1991;203(6):439-447.

Kinetics of the multi-step catalytic degradation of a polymer to its constituent subunits.
Leung Y, Wong L, Santer R, Alliet P, Lee P
Comput Biomed Res. 1991;24(3):209-221.

[Brain abnormality within the scope of a VACTERL association]
Nikischin W, Krolikowski I, Santer R
MONATSSCHR KINDERH. 1991;139(6):360-362.

Celiac disease in Down's syndrome.
Santer R, Sievers E, Oldigs H
J PEDIATR GASTR NUTR. 1991;13(1):121.

Computed tomography in superior mesenteric artery syndrome.
Santer R, Young C, Rossi T, Riddlesberger M
PEDIATR RADIOL. 1991;21(2):154-155.

Sudden infant death syndrome in Hamburg. An epidemiological analysis of 150 cases.
Veelken N, Ziegelitz J, Knispel J, Bentele K
Acta Paediatr Scand. 1991;80(1):86-92.

Effect of thyroxine on the maturation of cholecystokinin (CCK) receptors in pancreatic acini of neonatal rats.
Leung Y, Srimaruta N, Santer R, Lee P, Lebenthal E
PANCREAS. 1990;5(2):210-215.

[Cystic fibrosis and celiac disease. Report of two cases]
Santer R, Harms H
MONATSSCHR KINDERH. 1990;138(9):623-626.

The role of carbohydrate moieties of cholecystokinin receptors in cholecystokinin octapeptide binding: alteration of binding data by specific lectins.
Santer R, Leung Y, Alliet P, Lebenthal E, Lee P
BBA-BIOMEMBRANES. 1990;1051(1):78-83.

Medium-chain acyl CoA dehydrogenase deficiency: electron microscopic differentiation from Reye syndrome.
Santer R, Schmidt-Sommerfeld E, Leung Y, Fischer J, Lebenthal E
EUR J PEDIATR. 1990;150(2):111-114.

Response of exocrine pancreas to corticosterone and aldosterone after adrenalectomy.
Alliet P, Lu R, Madrazo de La Garza J, Santer R, Lebenthal E, Lee P
J STEROID BIOCHEM. 1989;33(6):1097-1102.

[Acute apparently life threatening events in 62 infants: anamnestic and clinical data].
Bentele K, Albani M
KLIN PADIATR. 1988;200(1):57-63.

Are there tests predictive for prolonged apnoea and SIDS? A review of epidemiological and functional studies.
Bentele K, Albani M
Acta Paediatr Scand Suppl. 1988;342:1-21.

Transcutaneous blood gases and sleep apnea profile in healthy preterm infants during early infancy.
Bentele K, Ancker U, Albani M
ADV EXP MED BIOL. 1987;220:89-94.

[Rectum and bladder duplication with malformations of the VACTERL association]
Santer R, Schröder H
KLIN PADIATR. 1987;199(2):119-121.

Rektum- und Blasenduplikatur mit Fehlbildungen der VACTERL-Assoziation
Santer R, Schröder H
KLIN PADIATR. 1987;199(2):119-21.

[Home monitoring of apnea in children at increased risk for sudden infant death (SIDS)].
Bentele K, Albani M, Schulte F
MONATSSCHR KINDERH. 1986;134(1):5-9.

Infant sleep apnea profile: preterm vs. term infants.
Albani M, Bentele K, Budde C, Schulte F
EUR J PEDIATR. 1985;143(4):261-268.

[Sudden infant death].
Bentele K
DEUT MED WOCHENSCHR. 1985;110(25):1013-1014.

Sleep apnoea profile in preterm infants recovering from respiratory distress syndrome.
Bentele K, Albani M, Budde C, Schulte F
ARCH DIS CHILD. 1985;60(6):547-554.

[Subacute citrullinemia--diagnosis and course up to 4th year of life].
Clemens P, Hellwege H, Bentele K, Heddrich M
KLIN PADIATR. 1984;196(1):55-57.

[Nephrocalcinosis following candida-septicemia and heparin-induced osteoporosis in an infant (author's transl)].
Hausdorf G, Bentele K, Hellwege H
MONATSSCHR KINDERH. 1982;130(3):168-170.

Neuronal control of neonatal respiration - sleep apnea and the sudden infant death syndrome.
Schulte F, Albani M, Schnizer H, Bentele K
NEUROPEDIATRICS. 1982;13:3-14.

CCT in different epilepsies with grand mal and focal seizures in 309 children: relation to clinical and electroencephalographic data.
Lagenstein I, Sternowsky H, Rothe M, Bentele K, Kühne G
NEUROPEDIATRICS. 1980;11(4):323-338.

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