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JIMD Reports|January 29, 2017
A Homozygous Mutation in GPT2 Associated with Nonsyndromic Intellectual Disability in a Consanguineous Family from Costa RicaTanya Lobo-Prada, Heinrich Sticht, Sixto Bogantes-Ledezma, et al.JIMD Reports|January 17, 2017
Prevalence of Mucopolysaccharidosis Types I, II, and VI in the Pediatric and Adult Population with Carpal Tunnel Syndrome (CTS). Retrospective and Prospective Analysis of Patients Treated for CTSMette Borch Nørmark, Nanna Kjaer, Allan Meldgaard LundJIMD Reports|January 17, 2017
Preliminary Results on Long-Term Potentiation-Like Cortical Plasticity and Cholinergic Dysfunction After Miglustat Treatment in Niemann-Pick Disease Type CAlberto Benussi, Maria Sofia Cotelli, Maura Cosseddu, et al.JIMD Reports|April 16, 2017
Glutaric Acidemia Type 1: A Case of Infantile StrokeGül Demet Kaya Ozcora, Songul Gokay, Mehmet Canpolat, et al.JIMD Reports|April 10, 2017
Systematic Review and Meta-analysis of Intelligence Quotient in Early-Treated Individuals with Classical GalactosemiaLindsey Welling, Susan E Waisbren, Kevin M Antshel, et al.JIMD Reports|May 14, 2015
Serum GDF15 Levels Correlate to Mitochondrial Disease Severity and Myocardial Strain, but Not to Disease Progression in Adult m.3243A>G CarriersSaskia Koene, Paul de Laat, Doorlène H van Tienoven, et al.JIMD Reports|February 4, 2026
Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase DeficiencyAaron B Bowen, Chiadika Nwanze, Cesar Alves, et al.JIMD Reports|January 26, 2026
Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical FeaturesRory J Tinker, Neil Jacob, Mohammad Ghouse Syed, et al.JIMD Reports|March 6, 2023
Early treatment of neonatal diabetes with oral glibenclamide in an extremely preterm infantAlfonso Galderisi, Elsa Kermorvant-Duchemin, Alejandra Daruich, et al.JIMD Reports|December 12, 2025
Holocarboxylase Synthetase Deficiency: A Second Case Report With Neonatal Cholestatic Liver DiseaseSophie Manoy, Claire Murray, Matthew Lynch, et al.Pageof 127