Progressive familial intrahepatic cholestasis (PFIC) is a group of rare disorders which are
caused by defect in bile secretion and present with intrahepatic cholestasis, usually in …

Biliary Atresia and other cholestatic childhood diseases are rare conditions affecting the
function and/or anatomy along the canalicular-bile duct continuum, characterised by onset of …

Bridging the gap between basic scientific advances and the understanding of liver disease—
the extensively revised new edition of the premier text in the field. The latest edition of The …

Hepatocellular carcinoma (HCC) is rare in young children. We attempted to see if
immunohistochemical and mutational‐analysis studies could demonstrate that deficiency of …

Bile formation at the canalicular membrane is a delicate process. This is illustrated by
inherited liver diseases due to mutations in ATP8B1, ABCB11, ABCB4, ABCC2 and …

Background & Aims: The mechanisms by which mutations in the familial intrahepatic
cholestasis-1 gene cause Byler's disease (progressive familial intrahepatic cholestasis type …

Pruritus is frequently reported by patients with cholestatic hepatobiliary diseases such as
primary biliary cirrhosis, primary sclerosing cholangitis, intrahepatic cholestasis of …

Drug-induced cholestasis is an important form of acquired liver disease and is associated
with significant morbidity and mortality. Bile acids are key signaling molecules, but they can …

Background Progressive familial intrahepatic cholestasis (PFIC) includes autosomal
recessive cholestatic rare diseases of childhood. Aims To update the panel of single genes …

Bile acid homeostasis, which is a critical part of human health, involves hepatic biosynthesis
and vectorial transport of bile acids in a number of organs (Fig. 1). Bile acids are synthesized …