Article
The natural history of phytosterolemia: Observations on its homeostasis.
Atherosclerosis - 1 Feb 2018
Mymin David, Salen Gerald, Triggs-Raine Barbara, Waggoner Darrel J, Dembinski Thomas, Hatch Grant M
Abstract excerpt
BACKGROUND AND AIMS: Phytosterolemia is a rare genetic disease caused by mutation of the ABCG5/8 gene. Our aim was to elucidate the natural history and homeostasis of phytosterolemia. METHODS: We analyzed a Hutterite kindred consisting of 21 homozygotes with phytosterolemia assembled over a period of two decades, all of whom carried the ABCG8 S107X mutation and were treated with ezetimibe. RESULTS: Most of these...
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