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Journal of Inherited Metabolic Disease|August 21, 2021
Efficacy and safety of arimoclomol in Niemann-Pick disease type C: Results from a double-blind, randomised, placebo-controlled, multinational phase 2/3 trial of a novel treatmentEugen Mengel, Marc C Patterson, Rosalia M Da Riol, et al.Journal of Inherited Metabolic Disease|May 15, 2021
Inborn disorders of the malate aspartate shuttleMelissa H Broeks, Clara D M van Karnebeek, Ronald J A Wanders, et al.Journal of Inherited Metabolic Disease|July 10, 2025
Intramolecular Epistatic Interactions in Genetic DiseasesTomás Oliveira-Madureira, Mariana Santos-Pereira, Luísa AzevedoJournal of Inherited Metabolic Disease|July 22, 2025
A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical FlashbackJean-Marie Saudubray, Manuel SchiffJournal of Inherited Metabolic Disease|July 9, 2025
Gene Dosage Sensitivity and Human Genetic DiseasesReiner A Veitia, Johannes Zschocke, James A BirchlerJournal of Inherited Metabolic Disease|July 27, 2025
Therapies for Mitochondrial Disease: Past, Present, and FutureMegan Ball, Nicole J van Bergen, Alison G Compton, et al.Journal of Inherited Metabolic Disease|July 24, 2025
Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment ResponseTanyel Zubarioglu, Banu Kadıoğlu-Yılmaz, Engin Köse, et al.Journal of Inherited Metabolic Disease|December 2, 2025
Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X-Linked AdrenoleukodystrophyStephanie I W van de Stadt, Aimy M A Wessel, Mirjam Langeveld, et al.Journal of Inherited Metabolic Disease|December 2, 2025
Human d-Glycerate Kinase, Encoded by GLYCTK and Deficient in d-Glyceric Aciduria, Is a Mitochondrial EnzymeAnne Korwitz-Reichelt, Daniel Schulke, Melanie Walter, et al.Journal of Inherited Metabolic Disease|December 11, 2025
Lipid Metabolism Alterations in Hereditary Inorganic Pyrophosphate Deficiency Syndromes: A Narrative Review of Insights and ControversiesRobbe Derudder, Olivier M VanakkerPageof 429