Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of
plasma LDL caused by mutations of the genes involved in the LDL receptor-mediated …

Familial hypercholesterolemia (FH) is one of the most common monogenic diseases,
leading to an increased risk of premature atherosclerosis and its cardiovascular …

As atherosclerosis begins in childhood, early diagnosis and treatment of familial
hypercholesterolemia (FH) is considered necessary. The basic diagnosis of pediatric FH …

Newborn screening was first introduced at the beginning of the 1960s with the successful
implementation of the first phenylketonuria screening programs. Early expansion of the …

Sitosterolemia is now considered an extremely rare disorder. Approximately~ 100 patients
have been reported to have sitosterolemia thus far. However, according to The Exome …

Genetics of Familial Hypercholesterolemia (FH) is ascribable to pathogenic variants in
genes encoding proteins leading to an impaired LDL uptake by the LDL receptor (LDLR) …

Familial hypercholesterolemia (FH) is the most frequent genetic disease and is
characterized by elevation of LDL-cholesterol that accumulates in tissues leading to …

Background: A substantial proportion of patients clinically diagnosed as having familial
hypercholesterolemia (FH) do not manifest causative mutation (s) in the FH genes such as …

Despite the rapid progress in diagnosis and treatment of cardiovascular disease (CVD), this
disease remains a major cause of mortality and morbidity. Recent progress over the last two …

Lipid disorders play a critical role in the intricate development of atherosclerosis and its
clinical consequences, such as coronary heart disease and stroke. These disorders are …