نتایج جستجو برای: progressive familial intrahepatic cholestasis
تعداد نتایج: 185833 فیلتر نتایج به سال:
The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II
The ATP-binding cassette transporter ABCB4 is a phosphatidylcholine translocator specifically expressed at the bile canalicular membrane in hepatocytes, highly homologous to the multidrug transporter ABCB1. Variations in the ABCB4 gene sequence cause progressive familial intrahepatic cholestasis type 3. We have shown previously that the I541F mutation, when reproduced either in ABCB1 or in ABCB...
Bile acids and bile salts have essential functions in the liver and in the small intestine. Their synthesis in the liver provides a metabolic pathway for the catabolism of cholesterol and their detergent properties promote the solubilisation of essential nutrients and vitamins in the small intestine. Inherited conditions that prevent the synthesis of bile acids or their excretion cause cholesta...
Frank Lammert, Hanns-Ulrich Marschall1, Anna Glantz2 and Siegfried Matern Department of Internal Medicine III, Aachen University of Technology – RWTH, Aachen, Germany, 1Karolinska Institutet, Department of Medicine, Division of Gastroenterology and Hepatology, Huddinge University Hospital, Stockholm, and 2Department of Obstetrics and Gynecology, Sahlgren’s University Hospital, East, Göteborg, S...
Human BSEP (ABCB11) mutations are the molecular basis for at least three clinical forms of liver disease, progressive familial intrahepatic cholestasis type 2 (PFIC2), benign recurrent intrahepatic cholestasis type 2 (BRIC2), and intrahepatic cholestasis of pregnancy (ICP). To better understand the pathobiology of these disease phenotypes, we hypothesized that different mutations may cause sign...
OBJECTIVE: To determine the phenotypic and genotypic characteristics of progressive familial intrahepatic cholestasis (PFIC) type 3 in Pakistani children a hospital setting. METHODS: This cross-sectional observational study was conducted at department Pediatrics Gastroenterology & Hepatology, The Children’s Hospital Lahore, Pakistan from October 2020 to March 2021. Patients either sex under...
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