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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 AbacanJIMD 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 <i>ACO2</i> 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.JIMD Reports|November 6, 2023
Partial N-acetyl glutamate synthase deficiency presenting as postpartum hyperammonemia: Diagnosis and subsequent pregnancy managementLea Abou Haidar, Panayotis Pachnis, Garrett K Gotway, et al.JIMD Reports|November 6, 2023
Patients with primary carnitine deficiency treated with L-carnitine are alive and doing well-A 10-year follow-up in the Faroe IslandsRannvá K Abrahamsen, Allan M Lund, Jan RasmussenPageof 125