Associated Papers
Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations.
Nguyen HH et al.
Frontiers in Pediatrics, 2020
32793520 (PubMed )
Supplement: Table_3.DOCX
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
33551825 (PubMed )
Supplement: Data_Sheet_1.zip › SupplementaryData_DataSheet › Supplementary_Tables_S1-S6.xlsx › Table_S4
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency.
Shi D et al.
The Journal of Biological Chemistry, 1998
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M et al.
Journal of Inherited Metabolic Disease, 1998
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.
Tuchman M et al.
American Journal of Medical Genetics, 1995
Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.
Tuchman M et al.
Human Mutation, 1995
The ornithine transcarbamylase gene: new "private" mutations in four patients and study of a polymorphism.
Tuchman M et al.
Human Mutation, 1994
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