載入...

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...

全面介紹

Na minha lista:
書目詳細資料
發表在:Front Pediatr
Main Authors: Nguyen, Huy-Hoang, Khanh Nguyen, Ngoc, Dung Vu, Chi, Thu Huong Nguyen, Thi, Nguyen, Ngoc-Lan
格式: Artigo
語言:Inglês
出版: Frontiers Media S.A. 2020
主題:
在線閱讀: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
標簽: 添加標簽
沒有標簽, 成為第一個標記此記錄!