Showing results (861-870 of 1,263) with videos related to
Sort By:
Pageof 127
JIMD Reports|May 13, 2020
Longitudinal metabolomics in dried bloodspots yields profiles informing newborn screening for succinic semialdehyde dehydrogenase deficiencyMadalyn Brown, Coleman Turgeon, Piero Rinaldo, et al.JIMD Reports|March 6, 2023
Autonomic instability, arrhythmia and visual impairment in a new presentation of MTFMT-related mitochondrial diseaseCaoimhe Howard, Arundhati Dev-Borman, John Stokes, et al.JIMD Reports|March 6, 2023
Visual impairment in mucopolysaccharidosis VIAugusto Monteiro Magalhães, Ana Filipa Moleiro, Esmeralda Rodrigues, et al.JIMD Reports|March 6, 2023
Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type IIMargot Eyskens, Luc Bruyndonckx, André B P Van Kuilenburg, et al.JIMD Reports|March 6, 2023
Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)Ruqaiah Altassan, Dimpna C Albert-Brotons, Mohammad Alowain, et al.JIMD Reports|January 23, 2026
Identification of Additional Cases of Severe Neonatal GABA-Transaminase DeficiencyDeima Alammary, Tisiana Low, Ganesh Srinivasan, et al.JIMD Reports|January 14, 2026
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical DiagnosisMolly M Crenshaw, Yasmeen Midgette, Shruthi Mohan, et al.JIMD Reports|January 9, 2026
Therapeutic Monitoring of Patients With Hereditary Tyrosinemia Type 1-A Belgian Monocentric ExperienceAnne-Sophie Adam, Lionel Marcélis, David Fage, et al.JIMD Reports|October 15, 2025
Treatment of Single Patient With PMM2-Congenital Disorder of Glycosylation With Govorestat (AT-007), an Aldose Reductase InhibitorElizabeth R Jalazo, Leigh Anne Weisenfeld, Anna Ligezka, et al.Pageof 127