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Bile Acid Synthesis Disorders in Japan: Long-Term Outcome and Chenodeoxycholic Acid Treatment.

Digestive diseases and sciences - 1 Nov 2021

Kimura Akihiko, Mizuochi Tatsuki, Takei Hajime, Ohtake Akira, Mori Jun, Shinoda Kunihiro, Hashimoto Takuji, Kasahara Mureo, Togawa Takao, Murai Tsuyoshi, Iida Takashi, Nittono Hiroshi

Abstract excerpt

BACKGROUND: We encountered 7 Japanese patients with bile acid synthesis disorders (BASD) including 3β-hydroxy-Δ5-C27-steroid dehydrogenase/isomerase (3β-HSD) deficiency (n = 3), Δ4-3-oxosteroid 5β-reductase (5β-reductase) deficiency (n = 3), and oxysterol 7α-hydroxylase deficiency (n = 1) over 21 years between 1996 and 2017. AIM: We aimed to clarify long-term outcome in the 7 patients with BASD as well as...

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PMID: 33385262
DOI: 10.1007/s10620-020-06722-4

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