The major cause of homocystinuria is mutation of the gene encoding the enzyme
cystathionine β‐synthase (CBS). Deficiency of CBS activity results in elevated levels of …

Nygård O, Vollset SE, Refsum H, Brattström L, Ueland PM (University of Bergen, Norway;
County Hospital, Kalmar, Sweden). Total homocysteine and cardiovascular disease …

Homocysteine is a key junction metabolite that can be converted to cystathionine in a
reaction catalyzed by the heme and pyridoxal phosphate-dependent cystathionine β …

Although a selective strong elevation in the plasma level of low-density lipoprotein (LDL)
cholesterol is the hallmark of familial hypercholesterolemia (FH), also other plasma …

Homocysteine is an independent risk factor for arteriosclerotic disease. Deficiency of
cystathionine β-synthase (CBS) is the major cause of inherited homocysteinemia. The CBS …

Familial hypercholesterolemia (FH) is a dominantly inherited disorder characterized by
marked elevation of plasma low-density lipoprotein (LDL) cholesterol concentrations and …

Abstract Cystathionine-β-synthase (CBS) deficiency is a human genetic disease causing
homocystinuria, thrombosis, mental retardation, and a suite of other devastating …

Aims The presence of tendon xanthomas is a marker of high risk of cardiovascular disease
(CVD) among patients with familial hypercholesterolaemia (FH). Therefore, xanthomas and …

Cystathionine β-synthase (CBS) is a unique heme-containing enzyme that catalyses a
pyridoxal 5′-phosphate (PLP)-dependent condensation of serine and homocysteine to give …

Highlights•Familial hypercholesterolemia (FH) is the most severe type of genetic
dyslipidemia.•There is evidence suggesting impaired HDL functionality in patients with …