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- W4253669656 abstract "Phytosterolemia is an autosomal recessive condition resulting from mutation in either the ABCG5 or the ABCG8 gene, in which there is excessive absorption of dietary sterols including plant sterols. As a result there is formation of xanthomas and premature atherosclerosis. The condition appears to be rare but it is likely that it is underdiagnosed. Examination of a blood film, with recognition of the significance of the particular combination of large platelets and stomatocytosis, is critical in making the diagnosis. Often the platelet count is reduced. Diagnosis is important because of the premature vascular disease and because patients who are misdiagnosed have sometimes been treated with corticosteroids or splenectomy 1. Correct diagnosis has become particularly important with the availability of specific treatment." @default.
- W4253669656 created "2022-05-12" @default.
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- W4253669656 date "2016-04-24" @default.
- W4253669656 modified "2023-09-27" @default.
- W4253669656 title "Phytosterolemia" @default.
- W4253669656 cites W1480815560 @default.
- W4253669656 doi "https://doi.org/10.1002/ajh.24343" @default.
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