Clinical and genetic features of congenital bile acid synthesis defect with a novel mutation in AKR1D1 gene sequencing: Case reports

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 early treatment with bile acid replacement therapy, with an excell...

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Detalles Bibliográficos
Autores principales: Pham, Anh-Hoa Nguyen, Thi, Kim-Oanh Bui, Thi, Mai-Huong Nguyen, Ngo, Diem-Ngoc, Naritaka, Nakayuki, Nittono, Hiroshi, Hayashi, Hisamitsu, Dao, Trang Thi, Nguyen, Kim-Huong Thi, Nguyen, Hoai-Nghia, Giang, Hoa, Tang, Hung-Sang, Nguyen, Tat-Thanh, Truong, Dinh-Kiet, Tran, Minh-Dien
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9276355/
https://www.ncbi.nlm.nih.gov/pubmed/35758383
http://dx.doi.org/10.1097/MD.0000000000029476

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