Sitosterolemia is an inherited metabolic disorder characterized by increased levels of plant
sterols, such as sitosterol. This disease is caused by loss-of-function genetic mutations in …

Abstract Purpose of Review The purpose of this review was to summarize important and
updated information on sitosterolemia. Sitosterolemia is an inherited lipid disorder …

Sitosterolemia is a recessive inherited metabolic disorder of unknown prevalence,
characterized by increased levels of plasma plant sterols. It is caused by 28 and 31 variants …

Sitosterolemia is a rare autosomal recessively inherited disease caused by mutations
affecting ABCG5 or ABCG8, which are located on human chromosome band 2p21. Around …

Background: Sitosterolemia is a rare autosomal recessive disorder caused by homozygous
or compound heterozygous variants in ABCG5/ABCG8. The disease is characterized by …

Sitosterolemia (OMIM 210250) is a rare, autosomal recessive lipid disorder initially
described almost 30 years ago. The disease is characterized by elevated plasma levels of …

Sitosterolemia is a rare autosomal recessive disorder of lipoprotein metabolism
characterized by xanthomas and increased plasma concentrations of plant sterols, such as …

Sitosterolemia is an autosomal recessive disorder characterized by increased plant sterol
levels, xanthomas, and accelerated atherosclerosis. Although it was originally reported in …

Phytosterolemia (sitosterolemia) is a rare autosomal recessive sterol storage disease
caused by mutations in either of the adenosine triphosphate (ATP) binding cassette …

Sitosterolaemia is an extremely rare autosomal recessive disease, the key feature of which
is the impairment of pathways that normally prevent absorption and retention of non …