Sitosterolemia with double variant in ABCG8 gene: a case report
Abstract Introduction Sitosterolemia is an autosomal recessive genetic disorder characterized by increased intestinal absorption of plant sterols. It is caused by pathogenic variants in the ABCG5 or ABCG8 genes, which encode subunits of transporters belonging to the ABC (ATP-Binding Cassette) protei...
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| 主要な著者: | , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Springer
2026-06-01
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| シリーズ: | Journal of Rare Diseases |
| 主題: | |
| オンライン･アクセス: | https://doi.org/10.1007/s44162-026-00205-2 |
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