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...

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Detalles Bibliográficos
Autores principales: Huang, Dan, Zhou, Qiong, Chao, Yun-Qi, Zou, Chao-Chun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
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

Internet

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

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