Article
Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype.
Hepatology (Baltimore, Md.) - 1 Jan 2015
Vaz Frédéric M, Paulusma Coen C, Huidekoper Hidde, de Ru Minke, Lim Cynthia, Koster Janet, Ho-Mok Kam, Bootsma Albert H, Groen Albert K, Schaap Frank G, Oude Elferink Ronald P J, Waterham Hans R, Wanders Ronald J A
Abstract excerpt
UNLABELLED: The enterohepatic circulation of bile salts is an important physiological route to recycle bile salts and ensure intestinal absorption of dietary lipids. The Na(+)-taurocholate cotransporting polypeptide SLC10A1 (NTCP) plays a key role in this process as the major transporter of conjugated bile salts from the plasma compartment into the hepatocyte. Here we present the first patient with NTCP...
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