Search for dissertations about: "LDL receptor gene mutations"

Found 3 swedish dissertations containing the words LDL receptor gene mutations.

  2. 1. Mutation Analysis and Hypercholesterolemia: Studies in FH patients and in healthy middle-aged men with high, low, or increasing cholesterol levels during a six-year follow-up (the CRISS study)

    Author : Ulf Ekström; Avdelningen för klinisk kemi och farmakologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Klinisk kemi; Clinical chemistry; LDL receptor; Mutation; risk factor; FH; familial hypercholesterolemia;

    Abstract : Our aims were to characterize familial hypercholesterolemia (FH) in a Swedish FH population and to further elucidate the clinical expression and treatment response in relation to genotype. Secondly, we wanted to identify gene variants, which may have impact on cholesterol levels in apparently healthy subjects. READ MORE

  4. 2. Familial hypercholesterolemia in Sweden : genetic and metabolic studies

    Author : Suzanne Lind; Karolinska Institutet; Karolinska Institutet; []
    Keywords : Familial hypercholesterolemia; LDL receptor gene mutations; LDL cholesterol; bile acids; autosomal recessive hypercholesterolemia; growth hormone; LDL clearance.;

    Abstract : Familial hypercholesterolemia (FH) is inherited as an autosomal codominant disease, usually caused by mutations in the LDL receptor (LDLR) gene. Heterozygous FH is a common disease with a prevalence of about 1/500 in most populations. Clinically, FH is characterized by elevated LDL cholesterol, tendon xanthomas and premature atherosclerosis. READ MORE

  5. 3. Familial hypercholesterolemia in Sweden : genetic and clinical studies

    Author : Peter Benedek; Karolinska Institutet; Karolinska Institutet; []
    Keywords : ;

    Abstract : Prevention of premature disease and death from cardiovascular complications of atherosclerosis is an important goal for public health, and the early identification of individuals with increased risk is an important goal of modern medicine. Familial hypercholesterolemia (FH) is one of the most common monogenic diseases (1/250 to 1/300) where strong evidence of positive health effects of intervention has been established. READ MORE