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Primary ∆4-3-oxosteroid 5β-reductase deficiency: Two cases in China
Aldo-keto reductase 1D1 (AKR1D1) deficiency, a rare but life-threatening form of bile acid deficiency, has not been previously described in China. Here, we describe the first two primary ∆4-3-oxosteroid 5β-reductase deficiency patients in Mainland China diagnosed by fast atom bombardment-mass spectr...
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| Autors principals: | , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Baishideng Publishing Group Co., Limited
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3531703/ https://ncbi.nlm.nih.gov/pubmed/23323017 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3748/wjg.v18.i47.7113 |
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