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

• मुख्य लेखकों: Huy-Hoang Nguyen (लेखक), Ngoc Khanh Nguyen (लेखक), Chi Dung Vu (लेखक), Thi Thu Huong Nguyen (लेखक), Ngoc-Lan Nguyen (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Frontiers Media S.A., 2020-07-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...