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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 RasmussenJIMD Reports|July 5, 2023
Increased prevalence of Parkinson's disease in alkaptonuriaLakshminarayan Ranganath, Milad Khedr, Anna M Milan, et al.JIMD Reports|September 13, 2023
Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centreMildrid Yeo, Preeya Rehsi, Megan Dorman, et al.JIMD Reports|September 13, 2023
Understanding the impact of pediatric single large-scale mtDNA deletion syndromes on caregivers: Burdens and challengesMcKenzie Chappell, Sumit Parikh, Elizabeth ReynoldsJIMD Reports|September 13, 2023
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapyWilliam B Hannah, Laura E Case, Edward C Smith, et al.JIMD Reports|September 13, 2023
A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie aheadClaire Horgan, Kelly Watts, Dipak Ram, et al.JIMD Reports|September 13, 2023
Diagnosis and management of children with McArdle Syndrome (GSD V) in New South WalesLouisa Adams, Arthavan Selvanathan, Kiera J Batten, et al.JIMD Reports|February 20, 2026
Pegvaliase Treatment for Adolescents With Phenylketonuria: A Multi-Site StudySuzanne Hollander, Briana Valli, Erika Vucko, et al.JIMD Reports|March 2, 2026
Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other HypersuccinylacetonemiasDenis Cyr, Bruno Maranda, Paula J WatersPageof 127