Associated Papers
Clinical and biochemical characteristics of patients with ornithine transcarbamylase deficiency and in silico analysis of OTC gene.
Zhang Y et al.
Orphanet Journal of Rare Diseases, 2025
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
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
Variants associated with urea cycle disorders in Japanese patients: Nationwide study and literature review.
Kido J et al.
American Journal of Medical Genetics. Part A, 2021
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.
Lu D et al.
Orphanet Journal of Rare Diseases, 2020
[Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency].
Liu N et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020
Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations.
Nguyen HH et al.
Frontiers in Pediatrics, 2020
The Application of Next-Generation Sequencing (NGS) in Neonatal-Onset Urea Cycle Disorders (UCDs): Clinical Course, Metabolomic Profiling, and Genetic Findings in Nine Chinese Hyperammonemia Patients.
Zhou Q et al.
Biomed Research International, 2020
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
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
[Clinical characteristics and analysis of mass spectrometric data in patients with ornithine transcarbamylase deficiency].
Han F et al.
Zhonghua Yi Xue Za Zhi, 2014
Late-onset ornithine transcarbamylase deficiency: An under recognized cause of metabolic encephalopathy.
Rush ET et al.
Sage Open Medical Case Reports, 2014
[Comparison and clinical application of two methods for determination of plasma chitotriosidase activity].
Wang Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
[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
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 (OTC) gene.
Yamaguchi S et al.
Human Mutation, 2006
Magnetic resonance imaging in late-onset ornithine transcarbamylase deficiency.
Kurihara A et al.
Brain & Development, 2003
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
Three novel and one recurrent ornithine carbamoyltransferase gene mutations in Polish patients.
Popowska E et al.
Journal of Inherited Metabolic Disease, 1999
Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.
Calvas P et al.
Human Mutation, 1998
The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M et al.
Journal of Inherited Metabolic Disease, 1998
The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
Matsuda I et al.
American Journal of Medical Genetics, 1997
Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.
Tuchman M et al.
Human Genetics, 1996
Partial duplication [dup. TCAC (178)] and novel point mutations (T125M, G188R, A209V, and H302L) of the ornithine transcarbamylase gene in congenital hyperammonemia.
Gilbert-Dussardier B et al.
Human Mutation, 1996
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