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Journal of Inherited Metabolic Disease|November 25, 2024
The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disordersAndrea Cortés Fernández, Jane Estrella, Devin Oglesbee, et al.Journal of Inherited Metabolic Disease|November 25, 2024
Epidemiology and economic burden of Wilson disease in France: A nationwide population-based studyShona Fang, Martina Furegato, Jessica Azzi, et al.Journal of Inherited Metabolic Disease|December 27, 2024
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar AbnormalitiesAmée M Buziau, Dirk J Lefeber, D Cassiman, et al.Journal of Inherited Metabolic Disease|November 21, 2024
Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disordersCalogera M Simonaro, Makiko Yasuda, Edward H SchuchmanJournal of Inherited Metabolic Disease|November 12, 2024
Current global vitamin and cofactor prescribing practices for primary mitochondrial diseases: Results of a European reference network surveyJulia Neugebauer, Karit Reinson, Marcello Bellusci, et al.Journal of Inherited Metabolic Disease|September 22, 2025
Effect of Exposure to Enzyme Replacement Therapy on Bone Mineral Density in Children With Gaucher DiseaseShoshana Revel-Vilk, Maayan Tiomkin, Dafna Frydman, et al.Journal of Inherited Metabolic Disease|December 16, 2020
Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiencyGeorge A Diaz, Andreas Schulze, Markey C McNutt, et al.Journal of Inherited Metabolic Disease|December 5, 2019
Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutationsMarjolein A W van den Boogert, Cleo L Crunelle, Lubna Ali, et al.Journal of Inherited Metabolic Disease|April 2, 2020
Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementationPiming Zhao, Isaac D Liu, Jeffrey B Hodgin, et al.Journal of Inherited Metabolic Disease|August 29, 2020
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial diseaseJenni M Lehtonen, Mari Auranen, Niklas Darin, et al.Pageof 429