[Diagnosis of autosomal monogenic hypercholesterolemia using lymphocytes as test material (author's transl)].
The significance of genetic factors contributing to the complex etiology of coronary heart disease is discussed using lipoprotein metabolism as an example. A radiochemical screening method was developed fro precise biochemical diagnosis of autosomal monogenic hypercholesterolemia. In this method lymphocytes are used as test material.
D000293:Adolescent; D000328:Adult; D002648:Child; D002784:Cholesterol / Q000097:blood; D008078:Cholesterol, LDL; D015243:Cholesterol, VLDL; D002914:Chylomicrons / Q000097:blood; D003327:Coronary Disease / Q000209:etiology; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008074:Lipoproteins / Q000097:blood; D008077:Lipoproteins, LDL / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008214:Lymphocytes / Q000032:analysis*; D008297:Male; D010641:Phenotype; D014280:Triglycerides / Q000097:blood
D008078:Cholesterol, LDL; D015243:Cholesterol, VLDL; D002914:Chylomicrons; D008074:Lipoproteins; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; D014280:Triglycerides; D002784:Cholesterol
Zum praktischen Wert des Lymphozytenmodells für die pathogenetische Beurteilung einzelner Serumcholesterinfraktionen des Menschen bei der autosomal-monogenen Hypercholesterinämie.