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Gene|November 9, 2020
Locus heterogeneity in two siblings presenting with developmental delay, intellectual disability and autism spectrum disorderMelanie Brugger, Theresa Brunet, Matias Wagner, et al.Journal of Inherited Metabolic Disease|April 11, 2015
(1)H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolitesInga Harting, Nikolas Boy, Jana Heringer, et al.Journal of Inherited Metabolic Disease|September 13, 2021
Subdural hematoma in glutaric aciduria type 1: High excreters are prone to incidental SDH despite newborn screeningNikolas Boy, Alexander Mohr, Sven F Garbade, et al.Orphanet Journal of Rare Diseases|December 24, 2015
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type INikolas Boy, Jana Heringer, Gisela Haege, et al.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.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.Journal of Inherited Metabolic Disease|September 14, 2012
Low lysine diet in glutaric aciduria type I--effect on anthropometric and biochemical follow-up parametersNikolas Boy, Gisela Haege, Jana Heringer, et al.Annals of Neurology|October 30, 2010
Use of guidelines improves the neurological outcome in glutaric aciduria type IJana Heringer, S P Nikolas Boy, Regina Ensenauer, et al.Molecular Genetics and Metabolism|April 24, 2012
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experienceStefan Kölker, S P Nikolas Boy, Jana Heringer, et al.Pediatric Research|July 12, 2007
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in GermanyStefan Kölker, Sven F Garbade, Nikolas Boy, et al.Pageof 4