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

This study aimed to analyze the types and treatment outcomes of IEBAM in Taiwanese infants and document the allele frequency of CYP7B1 hot spot mutations in the population.

Source: Pediatrics and Neonatology - July 19, 2019 Category: Perinatology & Neonatology Authors: Ju-Yin Chen, Jia-Feng Wu, Akihiko Kimura, Hiroshi Nittono, Bang-Yu Liou, Chee-Seng Lee, Ho-Sheng Chen, Yu-Chun Chiu, Yen-Hsuan Ni, Steven Shinn-Forng Peng, Wang-Tso Lee, I-Jung Tsai, Mei-Hwei Chang, Huey-Ling Chen Tags: Original Article Source Type: research