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JIMD Reports|May 13, 2024
Oral ribose supplementation in dystroglycanopathy: A single case studyR M J Thewissen, M A Post, D M Maas, et al.
JIMD Reports|January 19, 2026
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case SeriesSamuel Quinn Tholl, Wendy McCaul, Anthony Rupar, et al.
JIMD Reports|December 4, 2025
Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome SurveyBarbara K Burton, Hernan Amartino, Roberto Giugliani, et al.
JIMD Reports|December 26, 2024
Factors associated with poor outcomes in patients with maple syrup urine disease in a tertiary government hospital: A retrospective cohort studyChristine Mae S Avila, Mary Ann R Abacan
JIMD Reports|December 26, 2024
Acute metabolic decompensation after liver transplant in a patient with maple syrup urine diseaseShao Ching Tu, Marium Khan, Katie Wolfe, et al.
JIMD Reports|January 13, 2025
Liver Transplant From a Deceased Donor With Cystinosis: A Case ReportRaeda Taj, Kim Ng, Sanmati R Cuddapah, et al.
JIMD Reports|January 8, 2024
Diagnostic delay in late-onset Pompe disease among Chinese patients: A retrospective studyDongyue Yue, Kexin Jiao, Xingyu Xia, et al.
JIMD Reports|January 8, 2024
Pyruvate carboxylase deficiency type C; variable presentation and beneficial effect of triheptanoinI Bernhardt, L Van Dorp, M Dixon, et al.
JIMD Reports|January 8, 2024
Biochemical characterization on muscle tissue of a novel biallelic ACO2 mutation in an infant with progressive encephalopathyFederica Silvia Ricci, Serena Stanga, Mariarosa Mezzanotte, et al.
JIMD Reports|March 6, 2024
Neuropsychological stability in classical galactosemia: A pilot study in 10 adult patientsMerel E Hermans, Gert J Geurtsen, Carla E M Hollak, et al.
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