SITOSTEROLEMIA – RARE CAUSE OF HYPERCHOLESTEROLEMIA IN CHILD
Sitosterolemia is a rare autosomal recessive disorder caused by mutations in ABCG5 or ABCG8, leading to increased intestinal absorption and to a diminution of the biliary excretion of plant sterols (sitosterol, campesterol, stigmasterol) and cholesterol. We report a sitosterolemia case of a little g...
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Format: | Article |
Language: | English |
Published: |
"Alexandru Ioan Cuza" University of Iași
2019-02-01
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Series: | Journal of Experimental and Molecular Biology |
Subjects: | |
Online Access: | http://www.jemb.bio.uaic.ro/index.php/jemb/article/view/19 |