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JIMD Reports|September 6, 2021
Abnormal VLCADD newborn screening resembling MADD in four neonates with decreased riboflavin levels and VLCAD activityMarne C Hagemeijer, Esmee Oussoren, George J G Ruijter, et al.JIMD Reports|September 6, 2021
The challenges of pregnancy management in pyridoxine nonresponsive homocystinuria: The Irish experienceCaroline Hart, Jenny McNulty, Melanie Cotter, et al.JIMD Reports|September 6, 2021
Abnormal N-glycan fucosylation, galactosylation, and sialylation of IgG in adults with classical galactosemia, influence of dietary galactose intakeEileen P Treacy, Sebastian Vencken, Annet M Bosch, et al.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.Pageof 127