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JIMD Reports|March 26, 2025
Treatment of an Opposing Metabolic Situation: GLUT1-Deficiency Syndrome and Type 1 DiabetesAnna K Schoenlaub, Alexander Hoeller, Sabine Hofer, et al.JIMD Reports|May 13, 2024
Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduriaJessica I Gold, Arianna K Stefanatos, Jamie L Fraser, et al.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|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|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|August 11, 2026
Medium Chain Acyl-CoA Dehydrogenase Deficiency; an Unexpected Cause of Neonatal KetoacidosisNazreen Kamarus Jaman, Isaac Bernhardt, Sophie Ward, et al.Pageof 127