The functional relevance of bile acids in childhood cholestasis caused by ABCB11 and ABCB4 mutations

胆汁酸在 ABCB11 和 ABCB4 突变引起的儿童胆汁淤积中的功能相关性

• 批准号: 284685
• 负责人: Ling Victor
• 金额: $ 16.39万
• 依托单位: BC Cancer, part of PHSA (Vancouver)
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2013
• 资助国家: 加拿大
• 起止时间: 2013-03-01 至 2016-03-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=284685&lang=en
• 关键词: Bile Acid; Bile Salt Export Pump (Bsep); Cholestasis; Liver; Mdr3; Mutation; Phospholipids; Progressive Familial Intrahepatic Cholestasis (Pfic); Transporter

Genetic defects in bile formation are found in children with Progressive Familial Intrahepatic Cholestasis types 2 and 3 (PFIC2 and PFIC3). PFIC is a devastating liver disease, the most severe form of cholestasis, often resulting in jaundice, growth retar

在患有进行性家族性肝内胆汁淤积症2型和3型（PFIC 2和PFIC 3）的儿童中发现胆汁形成的遗传缺陷。PFIC是一种破坏性的肝脏疾病，是最严重的胆汁淤积形式，通常会导致黄疸，生长迟缓，