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...
Gardado en:
| Principais autores: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Springer
2026-06-01
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| Series: | Journal of Rare Diseases |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1007/s44162-026-00205-2 |
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