Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.
Santer R
J INHERIT METAB DIS. 2024.

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
Ammer L, Täuber K, Perez A, Dohrmann T, Denecke J, Santer R, Blümlein U, Ozga A, Pohl S, Muschol N
J CLIN MED. 2023;12(12):.

Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined Nonketotic Hyperglycinemia and Lipoate Deficiency
Arribas-Carreira L, Dallabona C, Swanson M, Farris J, Østergaard E, Tsiakas K, Hempel M, Aquaviva-Bourdain C, Koutsoukos S, Stence N, Magistrati M, Spector E, Kronquist K, Christensen M, Karstensen H, Feichtinger R, Achleitner M, Lawrence Merritt J, Pérez B, Ugarte M, Grünewald S, Riela A, Julve N, Arnoux J, Haldar K, Donnini C, Santer R, Lund A, Mayr J, Rodriguez-Pombo P, Van Hove J
HUM MOL GENET. 2023;32(6):917-933.

Neonatal screening for isovaleric aciduria: Reducing the increasingly high false-positive rate in Germany
Murko S, Aseman A, Reinhardt F, Gramer G, Okun J, Mütze U, Santer R
JIMD reports. 2023;64(1):114-120.

Neugeborenenscreening auf angeborene Störungen des Stoffwechsels, des Hormon-, des Blut-, des Immunsystems und des neuromuskulären Systems
Murko S, Gramer G, Santer R
Kinder- und Jugendarzt. 2023;54(4):234-246.

Liver transplantation in glycogen storage disease type Ib: The role of SGLT2 inhibitors
Murko S, Peschka M, Tsiakas K, Schulz-Jürgensen S, Herden U, Santer R
MOL GENET METAB REP. 2023;35:100977.

Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases-Data from the E-IMD consortium
Mütze U, Gleich F, Barić I, Baumgartner M, Burlina A, Chapman K, Chien Y, Cortès-Saladelafont E, De Laet C, Dobbelaere D, Eysken F, Gautschi M, Santer R, Häberle J, Joaquín C, Karall D, Lindner M, Lund A, Mühlhausen C, Murphy E, Roland D, Ruiz Gomez A, Skouma A, Grünert S, Wagenmakers M, Garbade S, Kölker S, Boy N
J INHERIT METAB DIS. 2023;46(2):220-231.

Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment
Mütze U, Henze L, Schröter J, Gleich F, Lindner M, Grünert S, Spiekerkoetter U, Santer R, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann J, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Schiergens K, Maier E, Hoffmann G, Garbade S, Kölker S
J INHERIT METAB DIS. 2023;46(6):1063-1077.

The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1
Park J, Nordström U, Tsiakas K, Keskin I, Elpers C, Mannil M, Heller R, Nolan M, Alburaiky S, Zetterström P, Hempel M, Schara-Schmidt U, Biskup S, Steinacker P, Otto M, Weishaupt J, Hahn A, Santer R, Marquardt T, Marklund S, Andersen P
BRAIN COMMUN. 2023;5(1):fcad017.

Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease
van der Ven A, Cabrera-Orefice A, Wente I, Feichtinger R, Tsiakas K, Weiss D, Bierhals T, Scholle L, Prokisch H, Kopajtich R, Santer R, Mayr J, Hempel M, Wittig I
MOL GENET METAB. 2023;140(3):107675.

Correction: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel G, Mozer-Glassberg Y, Landau Y, Schlieben L, Prokisch H, Feichtinger R, Mayr J, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya F, Baker J, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das A, Darin N, Della Marina A, Distelmaier F, Eklund E, Ersoy M, Fang W, Gaignard P, Ganetzky R, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis M, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor R, Thorburn D, Teles E, Wang J, Weghuber D, Wortmannd S
GENET MED. 2023;25(6):100828.

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Vogel G, Mozer-Glassberg Y, Landau Y, Schlieben L, Prokisch H, Feichtinger R, Mayr J, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya F, Baker J, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das A, Darin N, Della Marina A, Distelmaier F, Eklund E, Ersoy M, Fang W, Gaignard P, Ganetzky R, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis M, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor R, Thorburn D, Teles E, Wang J, Weghuber D, Wortmann S
GENET MED. 2023;25(6):100314.

Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function
Wanes D, Stellbrinck T, Marten L, Santer R, Naim H
GUT. 2023 [Epub ahead of print].

Effects of Infantile Hypophosphatasia on Human Dental Tissue
Wölfel E, von Kroge S, Matthies L, Köhne T, Petz K, Beikler T, Schmid-Herrmann C, Kahl-Nieke B, Tsiakas K, Santer R, Muschol N, Herrmann J, Busse B, Amling M, Rolvien T, Jandl N, Barvencik F
CALCIFIED TISSUE INT. 2023;112(3):308-319.

Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients
Ammer L, Muschol N, Santer R, Lang A, Breyer S, Sasu P, Petzoldt M, Dohrmann T
J CLIN MED. 2022;11(13):.

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Bölsterli B, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman A, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa F, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr J, Prokisch H, Wortmann S
NUTRIENTS. 2022;14(17):.

Disorders of Carbohydrate Absorption, Transmembrane Transport and Metabolism
Derks T, Lubout C, Woidy M, Santer R
2022. Physician’s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Blau N, Vici C, Ferreira C, Vianey-Saban C, van Karnebeek C (eds.). 2. ed. Springer Nature Switzerland, 649-700.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria
Grohmann-Held K, Burgard P, Baerwald C, Beblo S, Vom Dahl S, Das A, Dokoupil K, Fleissner S, Freisinger P, Heddrich-Ellerbrok M, Jung A, Korpel V, Krämer J, Lier D, Maier E, Meyer U, Mühlhausen C, Newger M, Och U, Plöckinger U, Rosenbaum-Fabian S, Rutsch F, Santer R, Schick P, Schwarz M, Spiekerkötter U, Strittmatter U, Thiele A, Ziagaki A, Mütze U, Gleich F, Garbade S, Kölker S
J INHERIT METAB DIS. 2022;45(6):1070-1081.

Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Grünert S, Derks T, Adrian K, Al-Thihli K, Ballhausen D, Bidiuk J, Bordugo A, Boyer M, Bratkovic D, Brunner-Krainz M, Burlina A, Chakrapani A, Corpeleijn W, Cozens A, Dawson C, Dhamko H, Milosevic M, Eiroa H, Finezilber Y, Moura de Souza C, Garcia-Jiménez M, Gasperini S, Haas D, Häberle J, Halligan R, Fung L, Hörbe-Blindt A, Horka L, Huemer M, Uçar S, Kecman B, Kilavuz S, Kriván G, Lindner M, Lüsebrink N, Makrilakis K, Mei-Kwun Kwok A, Maier E, Maiorana A, McCandless S, Mitchell J, Mizumoto H, Mundy H, Ochoa C, Pierce K, Fraile P, Regier D, Rossi A, Santer R, Schuman H, Sobieraj P, Spenger J, Spiegel R, Stepien K, Tal G, Tanšek M, Torkar A, Tchan M, Thyagu S, Schrier Vergano S, Vucko E, Weinhold N, Zsidegh P, Wortmann S
GENET MED. 2022;24(8):1781-1788.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis
Kožich V, Schwahn B, Sokolová J, Křížková M, Ditroi T, Krijt J, Khalil Y, Křížek T, Vaculíková-Fantlová T, Stibůrková B, Mills P, Clayton P, Barvíková K, Blessing H, Sykut-Cegielska J, Dionisi-Vici C, Gasperini S, García-Cazorla Á, Haack T, Honzík T, Ješina P, Kuster A, Laugwitz L, Martinelli D, Porta F, Santer R, Schwarz G, Nagy P
REDOX BIOL. 2022;58:102517.

Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia
Kuseyri Hübschmann O, Juliá-Palacios N, Olivella M, Guder P, Zafeiriou D, Horvath G, Kulhánek J, Pearson T, Kuster A, Cortès-Saladelafont E, Ibáñez S, García-Jiménez M, Honzík T, Santer R, Jeltsch K, Garbade S, Hoffmann G, Opladen T, García-Cazorla Á
ANN NEUROL. 2022;92(2):292-303.

Hypomorphic variants of lactase-phlorizin hydrolase in congenital lactase deficiency are trafficking incompetent and functionally inactive
Marten L, Wanes D, Stellbrinck T, Santer R, Naim H
BBA-MOL BASIS DIS. 2022;1868(4):166338.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies
Reuter M, Zech M, Hempel M, Altmüller J, Heung T, Pölsler L, Santer R, Thiele H, Trost B, Kubisch C, Scherer S, Rudnik-Schöneborn S, Bassett A, Lessel D
EUR J HUM GENET. 2022;30(5):611-618.

Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
Scharre S, Posset R, Garbade S, Gleich F, Seidl M, Druck A, Okun J, Gropman A, Nagamani S, Hoffmann G, Kölker S, Zielonka M
ANN CLIN TRANSL NEUR. 2022;9(11):1715-1726.

Retained visual function in a subset of patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)
Dulz S, Atiskova Y, Engel P, Wildner J, Tsiakas K, Santer R
OPHTHALMIC GENET. 2021;42(1):23-27.

The spectrum of peripheral neuropathy in disorders of the mitochondrial trifunctional protein
Grünert S, Eckenweiler M, Haas D, Lindner M, Tsiakas K, Santer R, Tucci S, Spiekerkoetter U
J INHERIT METAB DIS. 2021;44(4):893-902.

Evidence for a Genotype-Phenotype Correlation in Patients with Pathogenic GLUT2 (SLC2A2) Variants
Grünert S, Schumann A, Baronio F, Tsiakas K, Murko S, Spiekerkoetter U, Santer R
GENES-BASEL. 2021;12(11):.

Longitudinal development of antibody responses in covid-19 patients of different severity with elisa, peptide, and glycan arrays: An immunological case series
Heidepriem J, Dahlke C, Kobbe R, Santer R, Koch T, Fathi A, Seco B, Ly M, Schmiedel S, Schwinge D, Serna S, Sellrie K, Reichardt N, Seeberger P, Addo M, Loeffler F
PATHOGENS. 2021;10(4):.

Congenital disorders of glycosylation with defective fucosylation
Hüllen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J, Feichtinger R, Schaefers J, Frenz S, Kotlarz D, Momen T, Khoshnevisan R, Riedhammer K, Santer R, Herget T, Rennings A, Lefeber D, Mayr J, Thiel C, Wortmann S
J INHERIT METAB DIS. 2021;44(6):1441-1452.

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines
Kuseyri Hübschmann O, Horvath G, Cortès-Saladelafont E, Yıldız Y, Mastrangelo M, Pons R, Friedman J, Mercimek-Andrews S, Wong S, Pearson T, Zafeiriou D, Kulhánek J, Kurian M, López-Laso E, Oppebøen M, Kılavuz S, Wassenberg T, Goez H, Scholl-Bürgi S, Porta F, Honzík T, Santer R, Burlina A, Sivri H, Leuzzi V, Hoffmann G, Jeltsch K, Hübschmann D, Garbade S, García-Cazorla A, Opladen T
NAT COMMUN. 2021;12(1):5529.

Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients
Kuseyri Hübschmann O, Mohr A, Friedman J, Manti F, Horvath G, Cortès-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht J, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou D, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann G, Garbade S, Sivri H, Leuzzi V, Jeltsch K, García-Cazorla A, Opladen T, Harting I
J INHERIT METAB DIS. 2021;44(4):1070-1082.

The novel GCK variant p.Val455Leu associated with hyperinsulinism is susceptible to allosteric activation and is conducive to weight gain and the development of diabetes
Langer S, Waterstradt R, Hillebrand G, Santer R, Baltrusch S
DIABETOLOGIA. 2021;64(12):2687-2700.

Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study
Märtner E, Maier E, Mengler K, Thimm E, Schiergens K, Marquardt T, Santer R, Weinhold N, Marquardt I, Das A, Freisinger P, Grünert S, Vossbeck J, Steinfeld R, Baumgartner M, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer-Seifert J, Lenz D, Hoffmann G, Mühlhausen C, Ensenauer R, Garbade S, Kölker S, Boy N
J INHERIT METAB DIS. 2021;44(3):629-638.

A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C
Modin L, Ng V, Gissen P, Raiman J, Pfister E, Das A, Santer R, Faghfoury H, Santra S, Baumann U
CHILDREN-BASEL. 2021;8(9):.

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria
Mütze U, Henze L, Gleich F, Lindner M, Grünert S, Spiekerkoetter U, Santer R, Blessing H, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann J, Marquardt T, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Keller M, Walter M, Schiergens K, Maier E, Hoffmann G, Garbade S, Kölker S
J INHERIT METAB DIS. 2021;44(4):857-870.

SARS Coronavirus-2 variant tracing within the first Coronavirus Disease 19 clusters in northern Germany
Pfefferle S, Günther T, Kobbe R, Czech-Sioli M, Nörz D, Santer R, Oh J, Kluge S, Oestereich L, Peldschus K, Indenbirken D, Huang J, Grundhoff A, Aepfelbacher M, Knobloch J, Lütgehetmann M, Fischer N
CLIN MICROBIOL INFEC. 2021;27(1):130.e5-130.e8.

Whole-Exome Sequencing in Critically Ill Neonates and Infants: Diagnostic Yield and Predictability of Monogenic Diagnosis
Scholz T, Blohm M, Kortüm F, Bierhals T, Lessel D, van der Ven A, Lisfeld J, Herget T, Kloth K, Singer D, Perez A, Obi N, Johannsen J, Denecke J, Santer R, Kubisch C, Deindl P, Hempel M
NEONATOLOGY. 2021;118(4):454-461.

Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort
van der Ven A, Johannsen J, Kortüm F, Wagner M, Tsiakas K, Bierhals T, Lessel D, Herget T, Kloth K, Lisfeld J, Scholz T, Obi N, Wortmann S, Prokisch H, Kubisch C, Denecke J, Santer R, Hempel M
CLIN GENET. 2021;100(6):766-770.

Hip Morphology in Mucolipidosis Type II
Ammer L, Oussoren E, Muschol N, Pohl S, Rubio-Gozalbo M, Santer R, Stücker R, Vettorazzi E, Breyer S
J CLIN MED. 2020;9(3):E728.

Distinct early IgA profile may determine severity of COVID-19 symptoms: an immunological case series
Dahlke C, Heidepriem J, Kobbe R, Santer R, Koch T, Fathi A, Ly M, Schmiedel S, Seeberger P, , Addo M, Loeffler F
medRxiv. 2020.

Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency
Marten L, Brinkert F, Smith D, Prokisch H, Hempel M, Santer R
MOL GENET METAB REP. 2020;25:100681.

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome
Pennisi A, Maranda B, Benoist J, Baudouin V, Rigal O, Pichard S, Santer R, Romana Lepri F, Novelli A, Ogier de Baulny H, Dionisi-Vici C, Schiff M
J INHERIT METAB DIS. 2020;43(3):540-548.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Schneeberger P, Kortüm F, Korenke G, Alawi M, Santer R, Woidy M, Buhas D, Fox S, Juusola J, Alfadhel M, Webb B, Coci E, Abou Jamra R, Siekmeyer M, Biskup S, Heller C, Maier E, Javaher-Haghighi P, Bedeschi M, Ajmone P, Iascone M, Peeters H, Ballon K, Jaeken J, Rodríguez Alonso A, Palomares-Bralo M, Santos-Simarro F, Meuwissen M, Beysen D, Kooy R, Houlden H, Murphy D, Doosti M, Karimiani E, Mojarrad M, Maroofian R, Noskova L, Kmoch S, Honzik T, Cope H, Sanchez-Valle A, , Gelb B, Kurth I, Hempel M, Kutsche K
BRAIN. 2020;143(8):2437-2453.

Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients
Staufner C, Peters B, Wagner M, Alameer S, Barić I, Broué P, Bulut D, Church J, Crushell E, Dalgıç B, Das A, Dick A, Dikow N, Dionisi-Vici C, Distelmaier F, Bozbulut N, Feillet F, Gonzales E, Hadzic N, Hauck F, Hegarty R, Hempel M, Herget T, Klein C, Konstantopoulou V, Kopajtich R, Kuster A, Laass M, Lainka E, Larson-Nath C, Leibner A, Lurz E, Mayr J, McKiernan P, Mention K, Moog U, Mungan N, Riedhammer K, Santer R, Palafoll I, Vockley J, Westphal D, Wiedemann A, Wortmann S, Diwan G, Russell R, Prokisch H, Garbade S, Kölker S, Hoffmann G, Lenz D
GENET MED. 2020;22(3):610-621.

Phenotype in an Infant with SOD1 Homozygous Truncating Mutation
Andersen P, Nordström U, Tsiakas K, Johannsen J, Volk A, Bierhals T, Zetterström P, Marklund S, Hempel M, Santer R
NEW ENGL J MED. 2019;381(5):486-488.

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Dines J, Golden-Grant K, LaCroix A, Muir A, Cintrón D, McWalter K, Cho M, Sun A, Merritt L, Thies J, Niyazov D, Burton B, Kim K, Fleming L, Westman R, Karachunski P, Dalton J, Basinger A, Ficicioglu C, Helbig I, Pendziwiat M, Muhle H, Helbig K, Caliebe A, Santer R, Becker K, Suchy S, Douglas G, Millan F, Begtrup A, Monaghan K, Mefford H
GENET MED. 2019;21(3):601-607.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C
J INHERIT METAB DIS. 2019;42(6):1192-1230.

Validity of a rapid and simple fluorometric tripeptidyl peptidase 1 (TPP1) assay using dried blood specimens to diagnose CLN2 disease
Lukacs Z, Nickel M, Murko S, Nieves Cobos P, Schulz A, Santer R, Kohlschütter A
CLIN CHIM ACTA. 2019;492:69-71.

Exome Sequencing in Children: Undiagnosed Developmental Delay and Neurological Illness
Mahler E, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack T, Strom T, Kortüm F, Meitinger T, Muntau A, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M
DTSCH ARZTEBL INT. 2019;116(12):197-204.

Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine I, Posey J, Grochowski C, Jhangiani S, Rosenheck S, Kleyner R, Marmorale T, Yoon M, Wang K, Robison R, Cappuccio G, Pinelli M, Magli A, Coban Akdemir Z, Hui J, Yeung W, Wong B, Ortega L, Bekheirnia M, Bierhals T, Hempel M, Johannsen J, Santer R, Aktas D, Alikasifoglu M, Bozdogan S, Aydin H, Karaca E, Bayram Y, Ityel H, Dorschner M, White J, Wilichowski E, Wortmann S, Casella E, Kitajima J, Kok F, Monteiro F, Muzny D, Bamshad M, Gibbs R, Sutton V, , Van Esch H, Brunetti-Pierri N, Hildebrandt F, Brautbar A, Van den Veyver I, Glass I, Lessel D, Lyon G, Lupski J
AM J HUM GENET. 2019;105(2):302-316.

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
Harms F, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K
AM J HUM GENET. 2018;103(4):579-591.

Group 3 medulloblastoma in a patient with a GYS2 germline mutation and glycogen storage disease 0a
Holsten T, Tsiakas K, Kordes U, Bison B, Pietsch T, Rutkowski S, Santer R, Schüller U
CHILD NERV SYST. 2018;34(3):581-584.

A novel missense variant in the SDR domain of the WWOX gene leads to complete loss of WWOX protein with early-onset epileptic encephalopathy and severe developmental delay
Johannsen J, Kortüm F, Rosenberger G, Bokelmann K, Schirmer M, Denecke J, Santer R
NEUROGENETICS. 2018;19(3):151-156.

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;38(11):1511-1520.

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.

Glutaric Aciduria Type 1 and Acute Renal Failure: Case Report and Suggested Pathomechanisms
du Moulin M, Thies B, Blohm M, Oh J, Kemper M, Santer R, Mühlhausen C
JIMD reports. 2017.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients
Grünert S, Schlatter S, Schmitt R, Gemperle-Britschgi C, Mrázová L, Balcı M, Bischof F, Çoker M, Das A, Demirkol M, de Vries M, Gökçay G, Häberle J, Uçar S, Lotz-Havla A, Lücke T, Roland D, Rutsch F, Santer R, Schlune A, Staufner C, Schwab K, Mitchell G, Sass J
MOL GENET METAB. 2017;121(3):206-215.

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;21(6):.

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
Maas R, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain M, Al-Zaidan H, Balasubramaniam S, Barić I, Bubshait D, Burlina A, Christodoulou J, Chung W, Colombo R, Darin N, Freisinger P, Garcia Silva M, Grunewald S, Haack T, van Hasselt P, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr J, McClean P, De Meirleir L, Naess K, Ngu L, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor R, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers R, de Brouwer A, Wortmann S
ANN NEUROL. 2017;82(6):1004-1015.

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.

An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants
Pop A, Williams M, Struys E, Monné M, Jansen E, De Grassi A, Kanhai W, Scarcia P, Ojeda M, Porcelli V, van Dooren S, Lennertz P, Nota B, Abdenur J, Coman D, Das A, El-Gharbawy A, Nuoffer J, Polic B, Santer R, Weinhold N, Zuccarelli B, Palmieri F, Palmieri L, Salomons G
J INHERIT METAB DIS. 2017.

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. ed. Springer, 21-29.

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.

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.

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.

Hyperinsulinism-hyperammonemia Syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
Ninković D, Sarnavka V, Bašnec A, Ćuk M, Ramadža D, Fumić K, Kušec V, Santer R, Barić I
J PEDIATR ENDOCR MET. 2016;29(9):1083-8.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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

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.

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.

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.

Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Mayorandan S, Meyer U, Gokcay G, Segarra N, de Baulny H, van Spronsen F, Zeman J, de Laet C, Spiekerkoetter U, Thimm E, Maiorana A, Dionisi-Vici C, Moeslinger D, Brunner-Krainz M, Lotz-Havla A, Cocho de Juan J, Couce Pico M, Santer R, Scholl-Bürgi S, Mandel H, Bliksrud Y, Freisinger P, Aldamiz-Echevarria L, Hochuli M, Gautschi M, Endig J, Jordan J, McKiernan P, Ernst S, Morlot S, Vogel A, Sander J, Das A
ORPHANET J RARE DIS. 2014;9:107.

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.

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.

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.

Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
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
ORPHANET J RARE DIS. 2013;8:6.

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.

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.

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.

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: 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: 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.

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.

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.

Effect of kidney disease on glucose handling (including genetic defects)
Calado J, Santer R, Rueff J
Kidney international. Supplement. 2011;(120):S7-13.

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.

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 J MED EDU. 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 J MED EDU. 2011;28(1):15.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

Hereditary fructose intolerance and alpha(1) antitrypsin deficiency
Hillebrand G, Schneppenheim R, Oldigs H, Santer R
ARCH DIS CHILD. 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.

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.

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

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

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.

[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.

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.

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.

[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.

Letzte Aktualisierung aus dem FIS: 24.04.2024 - 05:09 Uhr