Pediatric patients with familially inherited sitosterolemia: Two case reports

BackgroundSitosterolemia is a rare recessive genetic abnormality of hyperlipidemia; it is characterized by increased levels and accumulation of sitosterol in the plasma and local tissues.Case descriptionsThe study subjects were two siblings (brother and sister) who had sitosterolemia with systemic m...

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Bibliographic Details

Published in:	Frontiers in Cardiovascular Medicine
Main Authors:	Shun-Qing Su, Di-Sheng Xiong, Xiu-Mei Ding, Jin-An Kuang, Yue-Chun Lin
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2022-08-01
Subjects:	sitosterolemia ABCG5 gene xanthoma surgery heterozygous pathogenic therapy
Online Access:	https://www.frontiersin.org/articles/10.3389/fcvm.2022.927267/full