HIGHLIGHTS
- who: Di-Sheng Xiong from the University of Washington, United States have published the paper: Pediatric patients with familially inherited sitosterolemia: Two case reports, in the Journal: (JOURNAL)
- what: The 2 cases in this study had hypercholesterolemic manifestations; the main clinical manifestations were atherosclerosis and xanthoma.
SUMMARY
Sitosterolemia is a rare, genetically abnormal hyperlipidemia; it is recessively inherited and characterized by increased levels and accumulation of sitosterol in the plasma and tissues. Most Asian patients have adenosine_triphosphate binding cassette transporter G family member 5(ABCG5) gene mutations, while most Caucasian patients . . .
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