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Clinical features and genetic analysis of childhood sitosterolemia: Two case reports and literature review
RATIONALE: Sitosterolemia is a rare autosomal recessive disorder of dyslipidemia due to mutations of genes ABCG5 and ABCG8, leading to highly elevated plasma levels of plant sterols and expanded body pools of cholesterol. PATIENT CONCERNS: We present a 9-year-old and a 7-year-old Chinese boy with hy...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer Health
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485811/ https://www.ncbi.nlm.nih.gov/pubmed/30985648 http://dx.doi.org/10.1097/MD.0000000000015013 |