Article
Genetic diagnosis of familial hypercholesterolemia in a South European outbreed population: influence of low-density lipoprotein (LDL) receptor gene mutations on treatment response to simvastatin in total, LDL, and high-density lipoprotein cholesterol.
The Journal of clinical endocrinology and metabolism - 1 Oct 2001
Chaves F J, Real J T, García-García A B, Civera M, Armengod M E, Ascaso J F, Carmena R
Abstract excerpt
The aims of this study were to examine the presence of mutations in the low-density lipoprotein receptor gene among subjects clinically diagnosed with familial hypercholesterolemia and to analyze whether the molecular diagnosis helps to predict the response to simvastatin treatment in our familial hypercholesterolemia population. Fifty-five probands and 128 related subjects with familial hypercholesterolemia were...
Topics
- Adult
- Aged
- Apolipoproteins B
- Apolipoproteins E
- Cholesterol, HDL
- Cholesterol, LDL
- Female
- Humans
- Hydroxymethylglutaryl-CoA Reductase Inhibitors
- Hyperlipoproteinemia Type II
- Male
- Middle Aged