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

Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular
disease and is often undiagnosed in young people. Although the disease is diagnosed …

Autosomal recessive hypercholesterolemia (ARH) is a rare disorder, due to complete loss of
function of an adaptor protein (ARH protein) required for receptor-mediated hepatic uptake …

The hypercholesterolaemic phenotype in CESD can be difficult to distinguish from other
known hypercholesterolaemic disorders. In the majority of CESD cases with …

Context: Sitosterolemia is an autosomal recessive disorder characterized by increased
intestinal absorption of plant sterols. It is caused by mutations in genes encoding ATP …

Background Familial hypercholesterolemia (FH) remains underdiagnosed and undertreated.
Objective Report the results of the first years (2017-2019) of the Mexican FH registry …

The burden caused by familial hypercholesterolemia (FH) varies among countries and
ethnic groups. The prevalence and characteristics of FH in Latin American (LA) countries is …

Familial hypercholesterolemia (FH) is the most common and most severe monogenic
hypercholesterolemia, characterized by the excess deposition of cholesterol in tissues that …

Sitosterolemia is a rare autosomal recessive disease characterized by a significant increase
in blood plant sterol levels. Clinical manifestations usually include xanthomas …

OBJECTIVE: Autosomal recessive hypercholesterolemia (ARH) is a lipid disorder caused by
mutations in a specific adaptor protein for the LDL receptor. ARH is rare except in Sardinia …