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Journal of Inherited Metabolic Disease|May 31, 2023
Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson diseaseZoe Mariño, Cristina Molera-Busoms, Celia Badenas, et al.Journal of Inherited Metabolic Disease|March 13, 2026
Long-Term Follow-Up of Patients With Transaldolase DeficiencyM Scaglione, A Brassier, A Wiedemann, et al.Journal of Inherited Metabolic Disease|December 3, 2024
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionalsNina N Stolwijk, Johannes Häberle, Hidde H Huidekoper, et al.Journal of Inherited Metabolic Disease|October 25, 2024
Exploring RNA therapeutics for urea cycle disordersEva Richard, Ainhoa Martínez-Pizarro, Lourdes R DesviatJournal of Inherited Metabolic Disease|October 26, 2024
Nontargeted urine metabolomic analysis of acute intermittent porphyria reveals novel interactions between bile acids and heme metabolism: New promising biomarkers for the long-term management of patientsThibaud Lefebvre, Thibaut Eguether, Etienne Thévenot, et al.Journal of Inherited Metabolic Disease|April 7, 2026
Caregiver Reports of Neurodevelopmental Functions in Pediatric Lysosomal Storage Disorders: A Scoping ReviewEileen M Gillan, Beth Leiro, Amanda Nagy, et al.Journal of Inherited Metabolic Disease|March 10, 2026
Advances in Therapeutics-Enzyme Replacement Therapy: Long-Term Evaluation and New ApproachesRobin LachmannJournal of Inherited Metabolic Disease|March 10, 2026
Organoids for Metabolic Disease ModelingArif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn FuchsJournal of Inherited Metabolic Disease|March 7, 2026
Safety and Effectiveness of Pharmacy Compounded Chenodeoxycholic Acid Capsules for Patients With Cerebrotendinous XanthomatosisNatalja Bouwhuis, Soumia Majait, Yasmin Polak, et al.Journal of Inherited Metabolic Disease|April 27, 2026
Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease CorrectionHimanshi Saxena, Rossana Domenis, Giulia Romano, et al.Pageof 429