Successful treatment of infantile oxysterol 7 α-hydroxylase deficiency with oral chenodeoxycholic acid

Deficiency of oxysterol 7 α-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic cholestasis and hereditary spastic paraplegia type 5. Most reported patients with CYP7B1 muta...

Source: BMC Gastroenterology - April 13, 2021 Category: Gastroenterology Authors: Yun-Ping Tang, Jing-Yu Gong, Kenneth D. R. Setchell, Wujuan Zhang, Jing Zhao and Jian-She Wang Tags: Case report Source Type: research