Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature
Abstract Background Mutations in the ABCG5 gene can cause sitosterolemia, which is a rare lipid metabolism disorder characterized by impaired regulation of phytosterols, leading to their excessive accumulation in tissues and organs, which triggers various complications. If left untreated, it may cau...
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| Principais autores: | , , , , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BMC
2025-08-01
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| 叢編: | Journal of Medical Case Reports |
| 主題: | |
| 在線閱讀: | https://doi.org/10.1186/s13256-025-05439-0 |
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