Associated Papers
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
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Fatal presentation of ornithine transcarbamylase deficiency in a 62-year-old man and family studies.
Rohininath T et al.
Journal of Inherited Metabolic Disease, 2004
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.
McCullough BA et al.
American Journal of Medical Genetics, 2000
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.
Gropman AL et al.
Molecular Genetics and Metabolism, 0
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