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
Liver transplantation in ornithine transcarbamylase deficiency: A retrospective multicentre cohort study.
Seker Yilmaz B et al.
Molecular Genetics and Metabolism Reports, 2023
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
Variable disease manifestations and metabolic management within a single family affected by ornithine transcarbamylase deficiency.
Baker J et al.
Molecular Genetics and Metabolism Reports, 2022
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort.
Gobin-Limballe S et al.
Journal of Inherited Metabolic Disease, 2021
Common polymorphic OTC variants can act as genetic modifiers of enzymatic activity.
Lopes-Marques M et al.
Human Mutation, 2021
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
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.
Clarkston K 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
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene.
Ali EZ et al.
Biomed Research International, 2018
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
Laemmle A et al.
Plos One, 2016
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
Choi JH et al.
Journal of Human Genetics, 2015
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 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
OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.
Lee JH et al.
Pediatric Neurology, 2014
Developmental and psychiatric presentations of inherited metabolic disorders.
Turnacioglu S et al.
Pediatric Neurology, 2013
[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
Acute treatment of hyperammonemia by continuous renal replacement therapy in a newborn patient with ornithine transcarbamylase deficiency.
Kim HJ et al.
Korean Journal of Pediatrics, 2011
Neuropsychiatric manifestations in late-onset urea cycle disorder patients.
Serrano M et al.
Journal of Child Neurology, 2010
In vivo assessment of mutations in OTC for dominant-negative effects following rAAV2/8-mediated gene delivery to the mouse liver.
Ginn SL et al.
Gene Therapy, 2009
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
Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro.
Kim GH et al.
Human Mutation, 2006
Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC).
Azevedo L et al.
Annals of Human Genetics, 2006
Genetic analysis in nine unrelated Italian patients affected by OTC deficiency: detection of novel mutations in the OTC gene.
Bisanzi S et al.
Molecular Genetics and Metabolism, 2002
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
The clinically variable R40H mutant ornithine carbamoyltransferase shows cytosolic degradation of the precursor protein in CHO cells.
Mavinakere M et al.
Journal of Inherited Metabolic Disease, 2001
Expression of wild-type and mutant human ornithine transcarbamylase genes in Chinese hamster ovary cells and lack of dominant negative effect of R141Q and R40H mutants.
Augustin L et al.
Pediatric Research, 2000
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.
Genet S et al.
Journal of Inherited Metabolic Disease, 2000
Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.
McCullough BA et al.
American Journal of Medical Genetics, 2000
[Enzyme defects of the urea cycle in differential acute encephalopathy diagnosis in adulthood. Diagnosis and current therapy concepts].
Schwarz S et al.
Der Nervenarzt, 1999
1.85-A resolution crystal structure of human ornithine transcarbamoylase complexed with N-phosphonacetyl-L-ornithine. Catalytic mechanism and correlation with inherited deficiency.
Shi D et al.
The Journal of Biological Chemistry, 1998
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
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
Ausems MG et al.
American Journal of Medical Genetics, 1997
Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
Ahrens MJ et al.
American Journal of Medical Genetics, 1996
Relative frequency of mutations causing ornithine transcarbamylase deficiency in 78 families.
Tuchman M et al.
Human Genetics, 1996
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
The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.
Tuchman M et al.
Journal of Medical Genetics, 1995
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency.
Tuchman M et al.
American Journal of Medical Genetics, 1995
Mutations and polymorphisms in the human ornithine transcarbamylase gene: mutation update addendum.
Tuchman M et al.
Human Mutation, 1995
Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes.
Matsuura T et al.
Human Genetics, 1994
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M
Human Mutation, 1993
1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.
Gropman AL et al.
Molecular Genetics and Metabolism, 0