Zobrazeno 1 - 1
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pro vyhledávání: '"Hisamitsu Hayashi, MD"'
Autor:
Anh-Hoa Nguyen Pham, MD, PhD, Kim-Oanh Bui Thi, MD, Mai-Huong Nguyen Thi, MD, Diem-Ngoc Ngo, MD, Nakayuki Naritaka, MD, Hiroshi Nittono, MD, Hisamitsu Hayashi, MD, Trang Thi Dao, MD, Kim-Huong Thi Nguyen, MD, Hoai-Nghia Nguyen, PhD, Hoa Giang, PhD, Hung-Sang Tang, MD, Tat-Thanh Nguyen, MD, Dinh-Kiet Truong, PhD, Minh-Dien Tran, MD
Publikováno v:
Medicine, Vol 101, Iss 25, p e29476 (2022)
Abstract. Rationale:. Congenital bile acid synthesis defect (BASD) is a rare disease caused by mutations in the aldo-keto reductase 1D1 gene, which encodes the primary Δ4-3-oxosteroid 5β-reductase enzyme. Early disease diagnosis is critical for ear
Externí odkaz:
https://doaj.org/article/07ebe75c38304d43ba06851477b8609f
