Associated Papers
Clinical and Genetic Analysis of 8 Children With Ornithine Transcarbamylase Deficiency: Two Novel Mutations.
Zhang C et al.
Neurology. Genetics, 2024
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
Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations.
Nguyen HH et al.
Frontiers in Pediatrics, 2020
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
[Analysis of clinical features, biochemical analysis and gene mutations in one Chinese pedigree with neonatal-onset ornithine transcarbamylase deficiency].
Sun WH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Estimation of the total number of disease-causing mutations in ornithine transcarbamylase (OTC) deficiency. Value of the OTC structure in predicting a mutation pathogenic potential.
Arranz JA et al.
Journal of Inherited Metabolic Disease, 2007
[Molecular characterization of a new mutation E122G of human ornithine transcarbamylase gene].
Gao H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
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