title: Familial hypercholesterolemia: genetic, biochemical and pathophysiologic considerations.
mesh_terms: D000328:Adult; D000429:Alcohol Oxidoreductases / Q000096:biosynthesis; D001647:Bile Acids and Salts / Q000378:metabolism; D002478:Cells, Cultured; D002648:Child; D002784:Cholesterol / Q000097:blood / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005796:Genes; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006937:Hypercholesterolemia / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006949:Hyperlipidemias / Q000175:diagnosis / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype
chemical_list: D001647:Bile Acids and Salts; D002784:Cholesterol; D000429:Alcohol Oxidoreductases