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Journal of Inherited Metabolic Disease|January 4, 2026
Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1Fabian Preisner, Sven F Garbade, Inga Harting, et al.Journal of Inherited Metabolic Disease|August 6, 2020
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mutFriederike Hörster, Ali Tunç Tuncel, Florian Gleich, et al.Children (Basel, Switzerland)|May 28, 2022
Unmet Needs of Parents of Children with Urea Cycle DisordersMara Scharping, Heiko Brennenstuhl, Sven F Garbade, et al.Journal of Inherited Metabolic Disease|May 10, 2014
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patientsSven F Garbade, Cheryl R Greenberg, Mübeccel Demirkol, et al.Nutrients|September 23, 2022
Maternal Vitamin B12 Deficiency Detected by Newborn Screening-Evaluation of Causes and CharacteristicsAnna T Reischl-Hajiabadi, Sven F Garbade, Patrik Feyh, et al.Journal of Inherited Metabolic Disease|May 17, 2024
Comparative analysis of gene and disease selection in genomic newborn screening studiesIsabel R Betzler, Maja Hempel, Ulrike Mütze, et al.International Journal of Neonatal Screening|December 27, 2024
Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1Elaine Zaunseder, Julian Teinert, Nikolas Boy, et al.Molecular Genetics and Metabolism|June 21, 2024
Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscapeNastassja Himmelreich, Santiago Ramón-Maiques, Rosa Navarrete, et al.Autophagy|November 24, 2021
Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published casesAfshin Saffari, Julian Schröter, Sven F Garbade, et al.European Journal of Pediatrics|March 16, 2022
Sudden neonatal death in individuals with medium-chain acyl-coenzyme A dehydrogenase deficiency: limit of newborn screeningUlrike Mütze, Uta Nennstiel, Birgit Odenwald, et al.Pageof 13