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JIMD Reports|October 13, 2018
Case of Neonatal Fatality from Neuromuscular Variant of Glycogen Storage Disease Type IVTavleen Sandhu, Michelle Polan, Zhongxin Yu, et al.JIMD Reports|May 8, 2023
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsyLynne Rumping, Petra J W Pouwels, Nicole I Wolf, et al.JIMD Reports|July 21, 2025
Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): A Case Report With a Complex Biochemical ProfileRomain Penicaud, Jean-Baptiste Ferron, Xavier Valette, et al.JIMD Reports|July 14, 2025
A Mild Juvenile Onset Canavan Disease With Atypical Clinical Presentation and MRI Brain FeaturesPreeya Rehsi, Ata Siddiqui, Rahul Singh, et al.JIMD Reports|July 14, 2025
A Pilot Study of Bone Marrow Transplantation in a GALT-Null Rat Model of Classic GalactosemiaShauna A Rasmussen, Madelyn M Seemiller, Ingrid Smith, et al.JIMD Reports|July 14, 2025
Mitochondrial DNA Pathogenic Variant Prevalence in Primary Mitochondrial Disease Patients With African (L) Mitochondrial Genome HaplogroupsSurita Meldau, Elizabeth M McCormick, Ibrahim George-Sankoh, et al.JIMD Reports|March 6, 2024
Clinical, biochemical and molecular characterization of a new case with FDX2-related mitochondrial disorder: Potential biomarkers and treatment optionsParith Wongkittichote, Cassandra Pantano, Miao He, et al.JIMD Reports|March 6, 2024
Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppressionAlberto B Burlina, Alessandro P Burlina, Renzo Mignani, et al.JIMD Reports|March 6, 2024
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literatureJayesh Sheth, Aadhira Nair, Riddhi Bhavsar, et al.Pageof 127