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Neuropediatrics|June 6, 2018
Age-Related Changes and Reference Values of Bicaudate Ratio and Sagittal Brainstem Diameters on MRISven F Garbade, Nikolas Boy, Jana Heringer, et al.Journal of Inherited Metabolic Disease|January 2, 2023
How guideline development has informed clinical research for organic acidurias (et vice versa)Patrick Forny, Friederike Hörster, Matthias R Baumgartner, et al.Journal of Inherited Metabolic Disease|April 20, 2023
Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world dataYuheng Yuan, Bianca Dimitrov, Nikolas Boy, et al.Journal of Child Neurology|July 20, 2014
Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case ReportMatthias Zielonka, Katrin Braun, Andreas Bengel, et al.Journal of Inherited Metabolic Disease|May 4, 2018
Patterns, evolution, and severity of striatal injury in insidious- versus acute-onset glutaric aciduria type 1Nikolas Boy, Sven F Garbade, Jana Heringer, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1Nikolas Boy, Sven F Garbade, Jana Heringer, et al.Journal of Inherited Metabolic Disease|January 17, 2018
Organic acidurias in adults: late complications and managementAli Tunç Tuncel, Nikolas Boy, Marina A Morath, et al.Orphanet Journal of Rare Diseases|April 26, 2017
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicityNikolas Boy, Jana Heringer, Renate Brackmann, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 28, 2020
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysisNikolas Boy, Katharina Mengler, Jana Heringer-Seifert, et al.Journal of Inherited Metabolic Disease|April 30, 2022
How longitudinal observational studies can guide screening strategy for rare diseasesUlrike Mütze, Katharina Mengler, Nikolas Boy, et al.Pageof 4