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JIMD Reports|November 12, 2013
Secondary Mitochondrial Respiratory Chain Defect Can Delay Accurate PFIC2 DiagnosisAnne Davit-Spraul, Marine Beinat, Dominique Debray, et al.
JIMD Reports|November 14, 2013
Dietary habits and metabolic control in adolescents and young adults with phenylketonuria: self-imposed protein restriction may be harmfulA M Das, K Goedecke, U Meyer, et al.
JIMD Reports|April 13, 2026
Long-Term Safety and Efficacy of Pegvaliase in Japanese Adults With Phenylketonuria: Final Results of a Phase III TrialYoko Nakajima, Mika Ishige, Tetsuya Ito, et al.
JIMD Reports|September 10, 2019
The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy statusAna M Martins, Gustavo Cabrera, Fernando Molt, et al.
JIMD Reports|February 23, 2013
Successful weight loss in two adult patients diagnosed with late-onset long-chain Fatty Acid oxidation defectH Zweers, C Timmer, E Rasmussen, et al.
JIMD Reports|April 8, 2026
Unifying the Communities of Early-Onset Glycogen Storage Disease Type IV and Adult Polyglucosan Body Disease Through a Genetic Prevalence Study of GBE1-Related DiseaseRebecca L Koch, H Orhan Akman, Erin Chown, et al.
JIMD Reports|March 2, 2026
Abnormal Newborn Screening Resembling Carnitine Palmitoyltransferase 1a Deficiency in Three Patients With COASY Protein Associated NeurodegenerationMatthew Lynch, Sophie Manoy, Claire Murray, et al.
JIMD Reports|February 25, 2026
Clinical Profiles, Genetic Variants, and Neurodevelopmental Outcomes Following Liver Transplantation in Maple Syrup Urine Disease: A Study From PalestineReham Khalaf-Nazzal, Huthaifa Haj-Ahmad, Jana Zaid, et al.
JIMD Reports|February 25, 2026
Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extensionJoseph Muenzer, Barbara K Burton, Paul Harmatz, et al.
JIMD Reports|March 9, 2026
Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease?Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, et al.
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