2024

Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis
Maier P, Jeyaweerasinkam S, Eberhard J, Soueidan L, Hämmerling S, Kohlmüller D, Feyh P, Gramer G, Garbade S, Hoffmann G, Okun J, Sommerburg O
INT J NEONAT SCREEN. 2024;10(1):.

Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders
Posset R, Garbade S, Gleich F, Scharre S, Okun J, Gropman A, Nagamani S, Druck A, Epp F, Hoffmann G, Kölker S, Zielonka M
GENET MED. 2024;26(4):101039.

2023

German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvements
Gapp S, Garbade S, Feyh P, Brockow I, Nennstiel U, Hoffmann G, Sommerburg O, Gramer G
PEDIATR PULM. 2023;58(3):844-852.

Vitamin-B12-Mangel im Neugeborenen- und Säuglingsalter: Ursachen, Früherkennung, Diagnostik und Vorstellung eines primär oralen Behandlungsschemas
Gramer G, Hoffmann G
MONATSSCHR KINDERH. 2023;171(8):717-725.

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
Maier E, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla A, Weiss K, Hammersen J, Weigel C, Thimm E, Grünert S, Hennermann J, Freisinger P, Krämer J, Das A, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade S, Okun J, Hoffmann G, Kölker S, Röschinger W
J INHERIT METAB DIS. 2023;46(6):1043-1062.

Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
Monostori P, Godejohann M, Janda J, Galla Z, Rácz G, Klinke G, Szatmári I, Zsidegh P, Kohlmüller D, Kölker S, Hoffmann G, Gramer G, Okun J
CLIN BIOCHEM. 2023;111:72-80.

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.

Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
Mütze U, Garbade S, Gleich F, Lindner M, Freisinger P, Hennermann J, Thimm E, Gramer G, Posset R, Krämer J, Grünert S, Hoffmann G, Kölker S
J INHERIT METAB DIS. 2023;46(1):15-27.

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
Schnabel E, Kölker S, Gleich F, Feyh P, Hörster F, Haas D, Fang-Hoffmann J, Morath M, Gramer G, Röschinger W, Garbade S, Hoffmann G, Okun J, Mütze U
NUTRIENTS. 2023;15(15):.

2022

Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and Characteristics
Reischl-Hajiabadi A, Garbade S, Feyh P, Weiss K, Mütze U, Kölker S, Hoffmann G, Gramer G
NUTRIENTS. 2022;14(18):.

Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net
Sommerburg O, Stahl M, Hämmerling S, Gramer G, Muckenthaler M, Okun J, Kohlmüller D, Happich M, Kulozik A, Mall M, Hoffmann G
J CYST FIBROS. 2022;21(3):422-433.

2021

Implementing a tracking system for confirmatory diagnostic results after positive newborn screening for cystic fibrosis-implications for process quality and patient care
Gramer G, Brockow I, Labitzke C, Fang-Hoffmann J, Beivers A, Feyh P, Hoffmann G, Nennstiel U, Sommerburg O
EUR J PEDIATR. 2021;180(4):1145-1155.

Maternal vitamin deficiency mimicking multiple acyl-CoA dehydrogenase deficiency on newborn screening
Gramer G, Hoffmann G, Hennermann J
MOL GENET METAB REP. 2021;27:.

Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
Muntau A, Burlina A, Eyskens F, Freisinger P, Leuzzi V, Sivri H, Gramer G, Pazdírková R, Cleary M, Lotz-Havla A, Lane P, Alvarez I, Rutsch F
ORPHANET J RARE DIS. 2021;16(1):341.

Health Outcomes of Infants with Vitamin B12 Deficiency Identified by Newborn Screening and Early Treated
Mütze U, Walter M, Keller M, Gramer G, Garbade S, Gleich F, Haas D, Posset R, Grünert S, Hennermann J, Thimm E, Fang-Hoffmann J, Syrbe S, Okun J, Hoffmann G, Kölker S
J PEDIATR-US. 2021;235:42-48.

Phenylalanine Effects on Brain Function in Adult Phenylketonuria
Pilotto A, Zipser C, Leks E, Haas D, Gramer G, Freisinger P, Schaeffer E, Liepelt-Scarfone I, Brockmann K, Maetzler W, Schulte C, Deuschle C, Hauser A, Hoffmann G, Scheffler K, van Spronsen F, Padovani A, Trefz F, Berg D
NEUROLOGY. 2021;96(3):e399-e411.

Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey
van Wegberg A, Trefz F, Gizewska M, Ahmed S, Chabraoui L, Zaki M, Maillot F, van Spronsen F
J PEDIATR-US. 2021;239:231-234.e2.

2020

High throughput newborn screening for aromatic ʟ-amino-acid decarboxylase deficiency by analysis of concentrations of 3-O-methyldopa from dried blood spots
Brennenstuhl H, Kohlmüller D, Gramer G, Garbade S, Syrbe S, Feyh P, Kölker S, Okun J, Hoffmann G, Opladen T
J INHERIT METAB DIS. 2020;43(3):602-610.

Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
Cannet C, Pilotto A, Rocha J, Schäfer H, Spraul M, Berg D, Nawroth P, Kasperk C, Gramer G, Haas D, Piel D, Kölker S, Hoffmann G, Freisinger P, Trefz F
ORPHANET J RARE DIS. 2020;15(1):61.

Newborn Screening for Vitamin B12 Deficiency in Germany-Strategies, Results, and Public Health Implications
Gramer G, Fang-Hoffmann J, Feyh P, Klinke G, Monostori P, Mütze U, Posset R, Weiss K, Hoffmann G, Okun J
J PEDIATR-US. 2020;216:165-172.e4.

Vitamin B12 Deficiency in Newborns and their Mothers-Novel Approaches to Early Detection, Treatment and Prevention of a Global Health Issue
Gramer G, Hoffmann G
CURR MED SCI. 2020;40(5):801-809.

Citrin deficiency mimicking mitochondrial depletion syndrome
Grünert S, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller A, Beck-Wödl S, Haack T, Schneider H, Fuchs H, Teufel U, Gramer G, Hannibal L, Spiekerkoetter U
BMC PEDIATR. 2020;20(1):518.

Primary carnitine deficiency - diagnosis after heart transplantation: better late than never!
Grünert S, Tucci S, Schumann A, Schwendt M, Gramer G, Hoffmann G, Erbel M, Stiller B, Spiekerkoetter U
ORPHANET J RARE DIS. 2020;15(1):87.

Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening
Mütze U, Garbade S, Gramer G, Lindner M, Freisinger P, Grünert S, Hennermann J, Ensenauer R, Thimm E, Zirnbauer J, Leichsenring M, Gleich F, Hörster F, Grohmann-Held K, Boy N, Fang-Hoffmann J, Burgard P, Walter M, Hoffmann G, Kölker S
PEDIATRICS. 2020;146(5):e20200444.

Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis
Radelfahr F, Riedhammer K, Keidel L, Gramer G, Meitinger T, Klopstock T, Wagner M
NEUROL-GENET. 2020;6(6):e525.

2019

Newborn screening for homocystinurias: Recent recommendations versus current practice
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom H, Baumgartner M, Bártl J, Dionisi-Vici C, Gleich F, Morris A, Kožich V, Huemer M, Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado M, Carducci C, Cassanello M, Cerone R, Couce M, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita M, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez R, Lund A, Mayne P, Meavilla S, Moat S, Okun J, Pasquini E, Pedron-Giner C, Racz G, Ruiz Gomez M, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström R, Zeyda M
J INHERIT METAB DIS. 2019;42(1):128-139.

Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria
Pilotto A, Blau N, Leks E, Schulte C, Deuschl C, Zipser C, Piel D, Freisinger P, Gramer G, Kölker S, Haas D, Burgard P, Nawroth P, Georg H, Scheffler K, Berg D, Trefz F
J INHERIT METAB DIS. 2019;42(3):398-406.

2018

Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data
Chapman K, Gramer G, Viall S, Summar M
MOL GENET METAB REP. 2018;15:106-109.

High incidence of maternal vitamin B12 deficiency detected by newborn screening: first results from a study for the evaluation of 26 additional target disorders for the German newborn screening panel
Gramer G, Fang-Hoffmann J, Feyh P, Klinke G, Monostori P, Okun J, Hoffmann G
WORLD J PEDIATR. 2018;14(5):470-481.

Stage of visual field loss and age at diagnosis in 1988 patients with different glaucomas: implications for glaucoma screening and driving ability
Gramer G, Gramer E
INT OPHTHALMOL. 2018;38(2):429-441.

Can untreated PKU patients escape from intellectual disability?: A systematic review
van Vliet D, van Wegberg A, Ahring K, Bik-Multanowski M, Blau N, Bulut F, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant J, Hollak C, Jørgensen J, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan N, Nardecchia F, Õunap K, Powell K, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz F, Usurelu N, Wilson C, van Karnebeek C, Hanley W, van Spronsen F
ORPHANET J RARE DIS. 2018;13(1):149.

2017

Newborn screening for remethylation disorders and vitamin B12 deficiency-evaluation of new strategies in cohorts from Qatar and Germany
Gramer G, Abdoh G, Ben-Omran T, Shahbeck N, Ali R, Mahmoud L, Fang-Hoffmann J, Hoffmann G, Al Rifai H, Okun J
WORLD J PEDIATR. 2017;13(2):136-143.

Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey
Gramer G, Gramer E, Weisschuh N
J GLAUCOMA. 2017;26(10):940-946.

Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
Monostori P, Klinke G, Richter S, Baráth Á, Fingerhut R, Baumgartner M, Kölker S, Hoffmann G, Gramer G, Okun J
PLOS ONE. 2017;12(9):e0184897.

Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial
Muntau A, Burlina A, Eyskens F, Freisinger P, De Laet C, Leuzzi V, Rutsch F, Sivri H, Vijay S, Bal M, Gramer G, Pazdírková R, Cleary M, Lotz-Havla A, Munafo A, Mould D, Moreau-Stucker F, Rogoff D
ORPHANET J RARE DIS. 2017;12(1):47.

Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation of a Two-Tier Strategy
Okun J, Gan-Schreier H, Ben-Omran T, Schmidt K, Fang-Hoffmann J, Gramer G, Abdoh G, Shahbeck N, Al Rifai H, Al Khal A, Haege G, Chiang C, Kasper D, Wilcken B, Burgard P, Hoffmann G
JIMD reports. 2017;32:87-94.

2016

Long-chain polyunsaturated fatty acid status in children, adolescents and adults with phenylketonuria
Gramer G, Haege G, Langhans C, Schuhmann V, Burgard P, Hoffmann G
PROSTAG LEUKOTR ESS. 2016;109:52-7.

Significant prevalence of sickle cell disease in Southwest Germany: results from a birth cohort study indicate the necessity for newborn screening
Kunz J, Awad S, Happich M, Muckenthaler L, Lindner M, Gramer G, Okun J, Hoffmann G, Bruckner T, Muckenthaler M, Kulozik A
ANN HEMATOL. 2016;95(3):397-402.

Genetic cause and prevalence of hydroxyprolinemia
Staufner C, Haack T, Feyh P, Gramer G, Raga D, Terrile C, Sauer S, Okun J, Fang-Hoffmann J, Mayatepek E, Prokisch H, Hoffmann G, Kölker S
J INHERIT METAB DIS. 2016;39(5):625-632.

2015

Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
Gramer G, Haege G, Fang-Hoffmann J, Hoffmann G, Bartram C, Hinderhofer K, Burgard P, Lindner M
JIMD reports. 2015;23:101-12.

Migraine and Vasospasm in Glaucoma: Age-Related Evaluation of 2027 Patients With Glaucoma or Ocular Hypertension
Gramer G, Weber B, Gramer E
INVEST OPHTH VIS SCI. 2015;56(13):7999-8007.

Paranoid delusion as lead symptom in two siblings with late-onset Tay-Sachs disease and a novel mutation in the HEXA gene
Stendel C, Gallenmüller C, Peters K, Bürger F, Gramer G, Biskup S, Klopstock T
J NEUROL. 2015;262(4):1072-3.

2014

Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life
Gramer G, Haege G, Glahn E, Hoffmann G, Lindner M, Burgard P
J INHERIT METAB DIS. 2014;37(2):189-95.

Results of a patient-directed survey on frequency of family history of glaucoma in 2170 patients
Gramer G, Weber B, Gramer E
INVEST OPHTH VIS SCI. 2014;55(1):259-64.

2013

Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses
Gramer G, Förl B, Springer C, Weimer P, Haege G, Mackensen F, Müller E, Völcker H, Hoffmann G, Lindner M, Krastel H, Burgard P
MOL GENET METAB. 2013;108(1):1-7.

2012

Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study
Gramer E, Reiter C, Gramer G
EUR J OPHTHALMOL. 2012;22(1):104-10.

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.

Pseudoexfoliationssyndrom: Fehlen der zentralen Zone des Pseudoexfoliations-Materials bei Patienten mit Pseudophakie - eine klinische Studie
Reiter C, Gramer E, Gramer G
KLIN MONATSBL AUGENH. 2012;229(3):241-5.

2011

Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany
Lindner M, Gramer G, Haege G, Fang-Hoffmann J, Schwab K, Tacke U, Trefz F, Mengel E, Wendel U, Leichsenring M, Burgard P, Hoffmann G
ORPHANET J RARE DIS. 2011;6:44.

2010

Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 Mutation
Dressler S, Meyer-Marcotty P, Weisschuh N, Jablonski-Momeni A, Pieper K, Gramer G, Gramer E
CASE REP MED. 2010;2010:621984.

Lysyl oxidase-like 1 gene polymorphisms in German patients with normal tension glaucoma, pigmentary glaucoma and exfoliation glaucoma
Wolf C, Gramer E, Müller-Myhsok B, Pasutto F, Gramer G, Wissinger B, Weisschuh N
J GLAUCOMA. 2010;19(2):136-41.

2009

Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria
Gramer G, Garbade S, Blau N, Lindner M
J INHERIT METAB DIS. 2009;32(1):52-57.

Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control
Lindner M, Gramer G, Garbade S, Burgard P
J INHERIT METAB DIS. 2009;32(4):514-22.

2007

Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemia
Gramer G, Burgard P, Garbade S, Lindner M
J INHERIT METAB DIS. 2007;30(4):556-562.

Letzte Aktualisierung aus dem FIS: 25.04.2024 - 00:35 Uhr