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JIMD 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.
JIMD Reports|December 11, 2025
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case ReportJeremy Clark, Joel Smith, Yoke Leong, et al.
JIMD Reports|December 5, 2025
Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical PracticePer Lundkvist, Karin Blom Malmberg, Linda Lindström, et al.
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