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Journal of Inherited Metabolic Disease|June 25, 2020
Hearing loss in patients with mucopolysaccharidoses-1 and -6 after hematopoietic cell transplantation: A longitudinal analysisBrigitte T A van den Broek, Adriana L Smit, Jaap Jan Boelens, et al.Journal of Inherited Metabolic Disease|September 4, 2021
MPS I: Early diagnosis, bone disease and treatment, where are we now?Sandra D K Kingma, An I JonckheereJournal of Inherited Metabolic Disease|September 8, 2021
Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamine in testisAhmed Reda, Koenraad Veys, Prashant Kadam, et al.Journal of Inherited Metabolic Disease|May 13, 2020
Mutations in GET4 disrupt the transmembrane domain recognition complex pathwayMitali A Tambe, Bobby G Ng, Shino Shimada, et al.Journal of Inherited Metabolic Disease|February 8, 2023
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disordersMarne C Hagemeijer, Jeroen C van den Bosch, Michiel Bongaerts, et al.Journal of Inherited Metabolic Disease|November 20, 2025
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological InsightsSjoukje S Polet, Elisabeth Z Siegal, Sabine A Fuchs, et al.Journal of Inherited Metabolic Disease|January 19, 2026
Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe DiseaseMichele G Croce, Leonardo Barzaghi, Matteo Paoletti, et al.Journal of Inherited Metabolic Disease|October 27, 2025
An Automated Analysis Tool for Diffusion Tensor Imaging-Based Quantitative MRI in X-Linked AdrenoleukodystrophyEda G Kabak, Fenna van Dodewaard, Stefan D Roosendaal, et al.Journal of Inherited Metabolic Disease|November 2, 2025
Removal of Toxic Metabolites-Chelation: Manganese DisordersHendrik Vogt, George E Kostakis, Rupert Purchase, et al.Journal of Inherited Metabolic Disease|October 22, 2025
Information Theory Analysis of CTX Shows Consistent Clinical PresentationJennifer Hanson, Penelope E BonnenPageof 429