Associated Papers
Newborn ornithine carbamyltransferase deficiency caused by new OTC gene mutations: a report of two cases and review of the literature on phenotype and genotype.
Yu A et al.
Translational Pediatrics, 2023
37969118 (PubMed )
Supplement: tp-12-10-1887-prf.pdf
Hyperammonemia in a girl who inherited a likely pathogenic variant of the ornithine transcarbamylase gene from her asymptomatic father-A peculiar pattern of X-linked recessive inheritance.
Chan TCH et al.
Clinical Case Reports, 2022
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 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
Kernicterus in a boy with ornithine transcarbamylase deficiency: A case report.
López-Corella E et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2017
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.
Martín-Hernández E et al.
Orphanet Journal of Rare Diseases, 2014
Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins' diet.
Ben-Ari Z et al.
Journal of Hepatology, 2010
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
A splicing mutation, a nonsense mutation (Y167X) and two missense mutations (I159T and A209V) in Spanish patients with ornithine transcarbamylase deficiency.
García-Pérez MA et al.
Human Genetics, 1995
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