AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases

• Main Authors: Ju-Yin Chen (Author), Jia-Feng Wu (Author), Akihiko Kimura (Author), Hiroshi Nittono (Author), Bang-Yu Liou (Author), Chee-Seng Lee (Author), Ho-Sheng Chen (Author), Yu-Chun Chiu (Author), Yen-Hsuan Ni (Author), Steven Shinn-Forng Peng (Author), Wang-Tso Lee (Author), I-Jung Tsai (Author), Mei-Hwei Chang (Author), Huey-Ling Chen (Author)
• Format: Book
• Published: Elsevier, 2020-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Inborn errors of bile acid metabolism (IEBAM) cause rare but treatable genetic disorders that can present as neonatal cholestasis or neurological diseases. Without timely primary bile acid treatment, patients may develop liver failure early in life. This study aimed to analyze the types...