Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations

Abstract excerpt

ABSTRACT: Sitosterolemia is a rare autosomal recessive genetic disorder in which patients develop hypercholesterolemia and may exhibit abnormal hematologic and/or liver test results. In this disease, dysfunction of either ABCG5 or ABCG8 results in the intestinal hyperabsorption of all sterols, including cholesterol and, more specifically, plant sterols or xenosterols, as well as in the impaired ability to excrete...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cholesterol and Lipid Metabolism
• Share to Liver Diseases and Immunity
• Share to Renal Diseases and Glomerulopathies