Features of Chinese patients with sitosterolemia

• Main Authors: Zhou, Zhizi, Su, Xueying, Cai, Yanna, Ting, Tzer Hwu, Zhang, Wen, Lin, Yunting, Xu, Aijing, Mao, Xiaojian, Zeng, Chunhua, Liu, Li, Li, Xiuzhen
• Format: Article
• Published: BioMed Central 2022
• Online Access: http://psasir.upm.edu.my/id/eprint/101508/; https://lipidworld.biomedcentral.com/articles/10.1186/s12944-021-01619-1#citeas

Background: Sitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes. The disease is frequently misdiagnosed and mistreated as familial hypercholesterolemia (FH). To gain a better understanding of t...