Associated Papers
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case Series.
Tholl SQ et al.
Jimd Reports, 2026
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
Han ST et al.
Journal of Inherited Metabolic Disease, 2022
Ornithine transcarbamylase deficiency: A diagnostic odyssey.
Knerr I et al.
Journal of Inherited Metabolic Disease, 2022
A serendipitous journey to a promoter variant: The c.-106C>A variant and its role in late-onset ornithine transcarbamylase deficiency.
Hertzog A et al.
Jimd Reports, 2022
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
Jang YJ et al.
Human Mutation, 2018
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