Associated Papers
Hyperammonaemic Encephalopathy Caused by Adult-Onset Ornithine Transcarbamylase Deficiency.
Niclasen BH et al.
Brain Sciences, 2022
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
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
26495027 (PubMed )
Supplement: 124630.f1.zip › mat.124630.v2 › Table_S2.xlsx › Acetylation
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.
Klein OD et al.
Hepatology International, 2008
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
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
Seven new mutations in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 1994
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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