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Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2019
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published casesShoko Komatsuzaki, Matthias Zielonka, William K Mountford, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 11, 2022
Identification of PMD subgroups using a myelination score for PMDInga Harting, Sven F Garbade, Stefan D Rosendaal, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2020
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathiesJulian Schröter, Jan H Döring, Sven F Garbade, et al.
Journal of Inherited Metabolic Disease|January 24, 2019
Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic eventsCorinna Buerger, Sven F Garbade, Fabienne Dietrich Alber, et al.
Orphanet Journal of Rare Diseases|December 5, 2024
Systematic quantitative modeling of the natural history of Aicardi syndrome: A cross sectional study of 245 published casesOliver Y Urban, Jan H Driedger, Sven F Garbade, et al.
Pediatric Pulmonology|November 29, 2022
German newborn screening for Cystic fibrosis: Parental perspectives and suggestions for improvementsSimon Gapp, Sven F Garbade, Patrik Feyh, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 4, 2024
Age-appropriate or delayed myelination? Scoring myelination in routine clinical MRIInga Harting, Sven F Garbade, Stefan D Roosendaal, et al.
Molecular Genetics and Metabolism|November 17, 2022
Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional studyAlexander Kovacevic, Sven F Garbade, Friederike Hörster, 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.
Children (Basel, Switzerland)|January 21, 2023
Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional StudyAlexander Kovacevic, Sven F Garbade, Friederike Hörster, et al.
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