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JIMD Reports|July 8, 2024
Hereditary tyrosinaemia type 1 in the absence of succinylacetone: 4-oxo 6-hydroxyhepanoate (4OHHA), a putative diagnostic biomarkerPreeya Rehsi, Karolina Witek, Erin Emmett, et al.JIMD Reports|July 8, 2024
Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemiaLinley Mangini, Roger Lawrence, Manuel E Lopez, et al.JIMD Reports|July 8, 2024
Elevated homocysteine is negatively correlated with plasma cystathionine β-synthase activity in givosiran-treated patientsMark A Keibler, Gautham V Sridharan, Marianne T Sweetser, et al.JIMD Reports|May 14, 2025
Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and GenotypeParith Wongkittichote, Kira E Jonatzke, Benjamin T Hyde, et al.JIMD Reports|April 7, 2025
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in JapanNobuhiko Okamoto, Machiko Kadoya, Yoshinao WadaJIMD Reports|April 21, 2025
Self-Reported Liver Disease and the Burden of Erythropoietic ProtoporphyriaHetanshi Naik, Kristen Wheeden, Hilary H Colwell, et al.JIMD Reports|April 7, 2025
Systemic Primary Carnitine Deficiency Presenting With Substantia Nigra and Basal Ganglia Injury: A Case ReportTomoki Saito, Kento Soma, Mai Kashisaka, et al.JIMD Reports|March 13, 2025
An atypical presentation in a child with propionic acidemia? Better think twice!Tim Burkhardt, Katharine L Kastor, Stine Christ, et al.JIMD Reports|March 7, 2025
Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion BabySiew Li Ting, Yusnita Yakob, Huzaimah Abdullah Sani, et al.JIMD Reports|March 26, 2025
Multimodal Metabolomic Analysis Reveals Novel Metabolic Disturbances in Adults With Early Treated PhenylketonuriaYann Dos Santos, Patrick Emond, Ida Vanessa Doederlein Schwartz, et al.Pageof 127