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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.JIMD Reports|October 1, 2025
A Deep Clinical and Biochemical Characterization of a Patient With Combined Malonic and Methylmalonic Aciduria (CMAMMA)Vincenza Gragnaniello, Alfonso Galderisi, Sara Tucci, et al.JIMD Reports|August 13, 2016
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase DeficiencyShane C Quinonez, Andrea H Seeley, Cindy Lam, et al.JIMD Reports|August 1, 2025
Glycine N-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of MetabolismMona Nourbakhsh, Mohammad Miryounesi, Ali Tale, et al.JIMD Reports|July 18, 2025
Human D-Lactate Dehydrogenase Deficiency: A Case Report in a Young BoyT B Sloth, M C Ørngreen, J Ek, et al.JIMD Reports|June 23, 2025
HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine DiseaseHathaipat Vaseenon, Thipwimol Tim-Aroon, Vitchayaporn Emarach Saengow, et al.JIMD Reports|February 10, 2025
Retrospective Study of Clinical and Genetic Profiles of Alpha-Mannosidosis Patients From the UAEAli K Saad, Tasneem Al-Hammadi, Shaikha Al-Ameri, et al.Pageof 127