Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.

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Title: Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.
Authors: Wu LL; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.; Department of Endocrinology and Metabolism Nephrology, Guangxi Medical University Cancer Hospital, Nanning, People's Republic of China., Zhang L; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China., Tang TT; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.; Department of Endocrinology, Yancheng No. 1, People's Hospital, Yancheng, People's Republic of China., Zhou YY; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China.; Department of Endocrinology and Metabolism, Sixth Affiliated Hospital of Kunming Medical University, Yuxi, People's Republic of China., Chang XX; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China., Guo W; Department of Laboratory Medicine, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China. guo.wei@zs-hospital.sh.cn., Yan HM; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China. yan.hongmei@zs-hospital.sh.cn., Lin HD; Department of Endocrinology and Metabolism, Zhongshan Hospital, Fudan University, No.180 Fenglin Road, Shanghai, 200032, People's Republic of China. lin.huandong@zs-hospital.sh.cn.
Source: Journal of medical case reports [J Med Case Rep] 2026 Jan 28; Vol. 20 (1). Date of Electronic Publication: 2026 Jan 28.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947 (Electronic) Linking ISSN: 17521947 NLM ISO Abbreviation: J Med Case Rep Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1752-1947
DOI:10.1186/s13256-025-05814-x