Back to search

Article

Clinical and genetic analysis of five children with ornithine transcarbamylase deficiency: two novel mutations

2022-07-14

Abstract excerpt

<h4>Background: </h4> Cases and studies of neurological symptoms caused by genetic metabolic diseases have been widely reported. Ornithine transcarbamylase deficiency (OTCD) is the most common inherited defect of urea genesis, which due to mutations in the OTC gene located on chromosome Xp21.1. In this study, we analyzed the clinical and genetic characteristics of 5 Chinese children diagnosed with OTCD. <h4>Method...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
201af2e0-deb1-589b-b848-e63b5a9264bb
DOI
10.21203/rs.3.rs-1776066/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Clinical and genetic analysis of five children with ornithine transcarbamylase deficiency: two novel mutationsDOI 10.21203/rs.3.rs-1776066/v1
Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern China.Semantic proximity
Clinical characteristics and molecular genetic analysis of ten cases of ornithine carbamoyltransferase deficiency in southeastern ChinaSemantic proximity
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency.Semantic proximity
Clinical and Molecular Characteristics of 69 Chinese Patients with Ornithine Transcarbamylase DeficiencySemantic proximity
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.Semantic proximity
[Report of a case with late-onset ornithine transcarbamylase deficiency with gas chromatography-mass spectrometry and DNA sequencing confirmation and literatures review].Semantic proximity
Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.Semantic proximity
Genotypic and Clinical Characteristics of Long-term Surviving Adult Patients with Urea Cycle Disorders: A Nationwide Study in JapanSemantic proximity
Pedigree and Functional Analysis of Two Cryptic OTC Variants Causing Ornithine Transcarbamylase Deficiency in Two Unrelated Chinese Male Patients.Semantic proximity
OTC gene in ornithine transcarbamylase deficiency: clinical course and mutational spectrum in seven Korean patients.Semantic proximity
Diagnostic and Management Issues in Patients with Late-Onset Ornithine Transcarbamylase DeficiencySemantic proximity
Clinical heterogeneity, genotype, and neurological outcomes in six Palestinian patients with ornithine transcarbamylase deficiency.Semantic proximity
Select a neighboring publication to make it the new centre.