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
[Analysis of OTC gene variants in four children with delayed onset Ornithine transcarbamylase deficiency].
Xie L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
Neuromyelitis Optica Complicated by Ornithine Transcarbamylase Deficiency Treated Safely with Pulse Steroid Therapy.
Yoshida R et al.
Internal Medicine (tokyo, Japan), 2021
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S et al.
Journal of Inherited Metabolic Disease, 2021
Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S et al.
Orphanet Journal of Rare Diseases, 2018
Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
Shao Y et al.
Clinical Genetics, 2017
Alternative Start Sites Downstream of Non-Sense Mutations Drive Antigen Presentation and Tolerance Induction to C-Terminal Epitopes.
Ashley SN et al.
Journal of Immunology (baltimore, Md. : 1950), 2017
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
Laemmle A et al.
Plos One, 2016
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
Partial expression of ornithine transcarbamylase deficiency in an Egyptian female carrier.
Al-Haggar M et al.
International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2014
Risk of hyperammonemic coma in the puerperium: two cases of women with diagnosed and undiagnosed deficiency of urea cycle enzymes.
Tihtonen K et al.
Acta Obstetricia Et Gynecologica Scandinavica, 2010
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
1H MRS allows brain phenotype differentiation in sisters with late onset ornithine transcarbamylase deficiency (OTCD) and discordant clinical presentations.
Gropman AL et al.
Molecular Genetics and Metabolism, 2008
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system.
Dobrowolski SF et al.
Human Mutation, 2007
Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
Ogino W et al.
The Kobe Journal of Medical Sciences, 2007
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency.
Yoo HW et al.
Journal of Korean Medical Science, 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
Identification of new mutations in the ornithine transcarbamylase (OTC) gene in Korean families.
Yoo HW et al.
Journal of Inherited Metabolic Disease, 1996
Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.
Oppliger Leibundgut EO et al.
Human Mutation, 1996
Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.
Tuchman M et al.
Human Mutation, 1995
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.
Gropman AL et al.
Molecular Genetics and Metabolism, 0