Homozygous familial hypercholesterolemia: specificity of the biochemical defect in cultured cells and feasibility of prenatal detection.
D000328:Adult; D000429:Alcohol Oxidoreductases / Q000378:metabolism*; D000653:Amniotic Fluid / Q000201:enzymology; D002460:Cell Line; D002478:Cells, Cultured; D002648:Child; D002784:Cholesterol / Q000096:biosynthesis; D003065:Coenzyme A; D005246:Feedback; D005260:Female; D005347:Fibroblasts / Q000201:enzymology; D005809:Genes, Regulator; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006949:Hyperlipidemias / Q000175:diagnosis / Q000201:enzymology* / Q000235:genetics*; D007231:Infant, Newborn; D008077:Lipoproteins, LDL / Q000494:pharmacology; D008297:Male; D008875:Middle Aged; D011296:Prenatal Diagnosis; D012867:Skin / Q000166:cytology
D008077:Lipoproteins, LDL; D002784:Cholesterol; D000429:Alcohol Oxidoreductases; D003065:Coenzyme A