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

• Hoofdauteurs: Huy-Hoang Nguyen (Auteur), Ngoc Khanh Nguyen (Auteur), Chi Dung Vu (Auteur), Thi Thu Huong Nguyen (Auteur), Ngoc-Lan Nguyen (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2020-07-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...