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Ornithine transcarbamylase deficiency

Ornithine carbamoyltransferase deficiency
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Ornithine transcarbamylase deficiency" returned 2 free, full-text review articles. First 2 results:
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.
Last Updated: Nov 13, 2018

Ornithine transcarbamylase (OTC) deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. OTC is one of the enzymes common to both the urea cycle and the bacterial arginine biosynthesis pathway; however, the role of OTC has changed ...

Management of ornithine transcarbamylase deficiency in pregnancy.
Last Updated: Oct 14, 2010

Ornithine transcarbamylase (OTC) deficiency is the most common enzymatic deficiency in the urea cycle. In catabolic states, such as the intrapartum and immediate postpartum periods, hyperammonemic comas with permanent neurological damage and death can develop. We report six cases ...

Ornithine transcarbamylase deficiency: a urea cycle defect.
Last Updated: Nov 21, 2013

The symptoms and signs of ornithine transcarbamylase deficiency are discussed. When the condition occurs among males in the neonatal period it is likely to be lethal. Pathological findings are non-specific. The diagnosis should be considered if coma with cerebral oedema and respiratory ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Ornithine transcarbamylase deficiency" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Ornithine transcarbamylase deficiency" returned 68 free, full-text research articles. First few results:
Application of graft-derived cell-free DNA in ornithine transcarbamylase deficiency patient after living donor liver transplantation: Two case reports.
Last Updated: Jan 25, 2019

Graft-derived-cell-free DNA (Gcf-DNA) in plasma was a promising biomarker to monitor graft-rejection after liver transplantation. However, little is known about the application of Gcf-DNA in living-donor-liver-transplantation (LDLT).

Hyperammonemia in a Woman with Late-onset Ornithine Transcarbamylase Deficiency.
Last Updated: May 28, 2019

A 52-year-old woman developed vomiting and disturbance of consciousness after consuming raw fish and sushi on a trip. A blood test showed hyperammonemia (310 μg/dL) with a normal liver function. She fell into a deep coma, and her serum ammonia level increased to 684 μg/dL. L-arginine ...

Gene Mutation Analysis and Prenatal Diagnosis of the Ornithine Transcarbamylase (OTC) Gene in Two Families with Ornithine Transcarbamylase Deficiency.
Last Updated: Feb 19, 2019

BACKGROUND The aim of this study was to perform gene detection in 2 clinical cases of highly suspected ornithine transcarbamylase deficiency (OTCD) pediatric patients by first-generation sequencing technology in order to confirm the pathogenic genetic factors of their families and ...

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68 Free Research Articles 303 Research Articles