Late-Onset Ornithine Transcarbamylase Deficiency and Variable Phenotypes in Vietnamese Females With OTC Mutations

Background: Ornithine transcarbamylase deficiency (OTCD) is an X- linked recessive disorder and the most common error of the urea cycle, caused by the mutations in the OTC gene. Due to X-inactivation, 15–20% of female carriers present symptoms of OTCD at late onset. Early diagnosis of OTCD by molecu...

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Bibliographic Details
Published in:Front Pediatr
Main Authors: Nguyen, Huy-Hoang, Khanh Nguyen, Ngoc, Dung Vu, Chi, Thu Huong Nguyen, Thi, Nguyen, Ngoc-Lan
Format: Artigo
Language:Inglês
Published: Frontiers Media S.A. 2020
Subjects:
Pediatrics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7390877/
https://ncbi.nlm.nih.gov/pubmed/32793520
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2020.00321
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