Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations
Jessica Del Castillo,
Anton T. J. Tool,
Karin van Leeuwen
et al.
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 intestinal hyperabsorption of all sterols, including cholesterol and more specifically plant sterols or xenosterols, as well as in the impaired ability to excrete xenosterols into the bile. It remains unknown how and why some patients develop hematologic abnormalities. Only a… Show more
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