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JIMD Reports|May 13, 2024
Computational structural genomics and clinical evidence suggest BCKDK gain-of-function may cause a potentially asymptomatic maple syrup urine disease phenotypeEmily Singh, Young-In Chi, Jessica Kopesky, et al.JIMD Reports|November 26, 2025
Elevated Transaminases: Does It Always Warrant a Liver Biopsy? Lessons Learned From Pompe DiseaseAlicia Khazzeka, Rebecca L Koch, Jeong-A Lim, et al.JIMD Reports|January 8, 2024
Characterization of orthopedic manifestations in patients with mucopolysaccharidosis II using data from 15 years of the Hunter Outcome SurveyBianca Link, Jaco Botha, Roberto GiuglianiJIMD Reports|February 11, 2015
Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of AlkaptonuriaIlya Gertsman, Bruce A Barshop, Jan Panyard-Davis, et al.JIMD Reports|November 22, 2015
Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in HumansMara Doimo, Raffaele Lopreiato, Valentina Basso, et al.JIMD Reports|July 24, 2026
Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)Hoi-Yin Chan, Rosanna Wong, Cheuk-Wing Fung, et al.JIMD Reports|August 2, 2026
Characterization of Adult Patients With Neurometabolic Disorders: A Cross-Sectional Study at a Tertiary Neurology Center in SwedenBoel Ernerdahl, Ashraf Yahia, Andreas PuschmannJIMD Reports|August 11, 2026
Medium Chain Acyl-CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal KetoacidosisNazreen Kamarus Jaman, Isaac Bernhardt, Sophie Ward, et al.JIMD Reports|August 12, 2026
The Impact of Hydrotherapy on Health-Related Quality of Life, Pain and Mobility in Individuals With Mucopolysaccharidosis Type II (Hunter Syndrome): A Pilot Feasibility StudyAndrew Oldham, Nicole Stockton, Mark Warburton, et al.JIMD Reports|August 14, 2026
Challenges in Managing Pregnancy in Patients With Fructose 1, 6-Bisphosphatase Deficiency: A Single-Centre ExperienceRaashda A Sulaiman, Ibrahim Alqasir, Dana Alqasabi, et al.Pageof 127