Healthy Patients With AKR1D1 Mutation Not Requiring Primary Bile Acid Therapy: A Case Series

Δ(4)-3-Oxosteroid 5β-reductase (AKR1D1) deficiency typically causes severe cholestasis occurs in newborns, leading to death unless patients are treated with primary bile acids. However, we encountered an AKR1D1 deficiency patient treated with only ursodeoxycholic acid who had cholestasis until about...

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Detalles Bibliográficos
Autores principales: Kimura, Akihiko, Mori, Jun, Pham, Anh-Hoa Nguyen, Thi, Kim-Oanh Bui, Takei, Hajime, Murai, Tsuyoshi, Hayashi, Hisamitsu, Nittono, Hiroshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins, Inc. 2023
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684241/
https://www.ncbi.nlm.nih.gov/pubmed/38034430
http://dx.doi.org/10.1097/PG9.0000000000000372

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10684241/
https://www.ncbi.nlm.nih.gov/pubmed/38034430
http://dx.doi.org/10.1097/PG9.0000000000000372

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