Associated Papers
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S et al.
Journal of Inherited Metabolic Disease, 2021
Clinical and genetic analysis of five Chinese patients with urea cycle disorders.
Zheng Z et al.
Molecular Genetics & Genomic Medicine, 2020
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
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.
Brassier A et al.
Orphanet Journal of Rare Diseases, 2015
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
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
Shchelochkov OA et al.
Molecular Genetics and Metabolism, 2009
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Calvas P et al.
Human Mutation, 1998
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