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
Pathogenic variants of ornithine transcarbamylase deficiency: Nation-wide study in Japan and literature review.
Kido J et al.
Frontiers in Genetics, 2022
Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations.
Nguyen HH et al.
Frontiers in Pediatrics, 2020
Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
Haskins N et al.
Frontiers in Physiology, 2020
Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.
Shao Y et al.
Clinical Genetics, 2017
Computational pipeline to identify and characterize functional mutations in ornithine transcarbamylase deficiency.
Magesh R et al.
3 Biotech, 2014
[Clinical and gene mutation analyses of three patients with ornithine carbamoyltransferase deficiency].
Mo WQ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2011
Mutations and polymorphisms in the human ornithine transcarbamylase gene.
Tuchman M et al.
Human Mutation, 2002
Identification of a cytogenetic deletion and of four novel mutations (Q69X, I172F, G188V, G197R) affecting the gene for ornithine transcarbamylase (OTC) in Spanish patients with OTC deficiency.
Climent C et al.
Human Mutation, 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
Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.
Shimadzu M et al.
Human Mutation, 1998
The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.
Matsuda I et al.
American Journal of Medical Genetics, 1997
Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.
Hoshide R et al.
American Journal of Medical Genetics, 1996
[Gene therapy for ornithine transcarbamylase deficiency].
Matsuda I et al.
Tanpakushitsu Kakusan Koso. Protein, Nucleic Acid, Enzyme, 1995
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
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
Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency.
Matsuura T et al.
Human Mutation, 1994