Associated Papers
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
Storkanova G et al.
Clinical Genetics, 2013
Characteristics of NO cycle coupling with urea cycle in non-hyperammonemic carriers of ornithine transcarbamylase deficiency.
Nagasaka H et al.
Molecular Genetics and Metabolism, 2013
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
Matsuda I et al.
American Journal of Medical Genetics, 1997
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