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Journal of Inherited Metabolic Disease|October 14, 2025
Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI StudyEva Niess, Fabian Niess, Wolfgang Bogner, et al.Journal of Inherited Metabolic Disease|September 26, 2025
Screening and Diagnosis of Lysosomal Disorders: Biochemical and Genomic ApproachesMatthew J Schultz, Patricia L Hall, Gisele Bentz Pino, et al.Journal of Inherited Metabolic Disease|September 30, 2025
Are Inherited Metabolic Disorders More Common and Less Predictable Than We Thought?Nina B Gold, Alanna Strong, Harini Somanchi, et al.Journal of Inherited Metabolic Disease|June 20, 2020
Screening for abnormal glycosylation in a cohort of adult liver disease patientsJos C Jansen, Bart van Hoek, Herold J Metselaar, et al.Journal of Inherited Metabolic Disease|April 24, 2020
Long-term survival outcomes of patients with Niemann-Pick disease type C receiving miglustat treatment: A large retrospective observational studyMarc C Patterson, William S Garver, Robert Giugliani, et al.Journal of Inherited Metabolic Disease|September 18, 2025
Overview of European Practices for Management of Tyrosinemia Type 1: Towards European GuidelinesAllysa M Kuypers, Anibh M Das, Arianna Maiorana, et al.Journal of Inherited Metabolic Disease|August 12, 2025
Personalized Genome-Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria PatientsAlmut Heinken, Hussein Awada, Vito R T Zanotelli, et al.Journal of Inherited Metabolic Disease|August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic LeukodystrophyShanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.Journal of Inherited Metabolic Disease|July 30, 2025
Myopathic Symptoms and Exercise Tolerance in Adolescent Patients With Long-Chain Fatty Acid Oxidation DisordersMarit Schwantje, Marco van Brussel, Tim Takken, et al.Journal of Inherited Metabolic Disease|August 14, 2021
Congenital disorders of glycosylation with defective fucosylationAndreas Hüllen, Kristina Falkenstein, Corina Weigel, et al.Pageof 429