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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Lippincott Williams & Wilkins, Inc.
2023
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| Materias: | |
| 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 |