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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.JIMD Reports|April 18, 2022
Opportunities and challenges in machine learning-based newborn screening-A systematic literature reviewElaine Zaunseder, Saskia Haupt, Ulrike Mütze, 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.JIMD Reports|January 8, 2024
Psychosocial issues and coping strategies in families affected by long-chain fatty acid oxidation disordersMaren Thiel, Sven F Garbade, Stefanie Rosenbaum-Fabian, et al.Journal of Inherited Metabolic Disease|September 13, 2023
The challenge of understanding and predicting phenotypic diversity in urea cycle disordersRoland Posset, Matthias Zielonka, Florian Gleich, 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.Journal of Inherited Metabolic Disease|November 5, 2025
Propionic Acidemia: Gray Matter Disease Meets Subcortical LeukodystrophyHannah Fels-Palesandro, Friederike Hörster, Dorothea Haas, et al.Journal of Inherited Metabolic Disease|October 24, 2025
Trial Readiness: Understanding the Natural History of Rare DiseasesThomas Opladen, Ulrike Mütze, Florian Gleich, et al.Orphanet Journal of Rare Diseases|September 4, 2021
Impact of glycogen storage disease type I on adult daily life: a surveySven F Garbade, Viviane Ederer, Peter Burgard, et al.Pageof 13