Folding defects in P‐type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4‐phenylbutyrate
Lieke M. van der Velden, Janneke M. Stapelbroek, Elmar Krieger, Peter V. E. van den Berghe, Ruud Berger, Patricia M. Verhulst, Joost C. M. Holthuis, Roderick H. J. Houwen, Leo W. J. Klomp, Stan F. J. van de Graaf – 23 December 2009 – Deficiency in P‐type ATP8B1 is a severe and clinically highly variable hereditary disorder that is primarily characterized by intrahepatic cholestasis. It presents either as a progressive (progressive familial intrahepatic cholestasis type 1 [PFIC1]) or intermittent (benign recurrent intrahepatic cholestasis type 1 [BRIC1]) disease.