Cholestasis in a patient with gallstones and a normal gamma‐glutamyl transferase
Sheida Moghadamrad, Matteo Montani, Rosemarie Weimann, Andrea De Gottardi – 27 February 2013 – Cholestasis with normal gamma glutamyl transferase characterizes functional deficiencies in the gene ABCB11, which encodes the bile salt export pump (BSEP), a liver‐specific adenosine triphosphate (ATP)‐binding cassette transporter. Here we report the case of a patient presenting with features of benign recurrent intrahepatic cholestasis associated with a heterozygous mutation in the ABCB11 gene.