[An enzymatic defect in cholesterol metabolism. Some views of cholesterol metabolism revealed by studies of a newly discovered familial metabolic disease].
D000217:Acyltransferases; D000293:Adolescent; D000328:Adult; D000740:Anemia / Q000150:complications; D002675:Child, Preschool; D002784:Cholesterol / Q000378:metabolism*; D006801:Humans; D008074:Lipoproteins / Q000378:metabolism; D008661:Metabolism, Inborn Errors / Q000378:metabolism*; D010713:Phosphatidylcholines; D011507:Proteinuria / Q000150:complications; D014280:Triglycerides / Q000378:metabolism
D008074:Lipoproteins; D010713:Phosphatidylcholines; D014280:Triglycerides; D002784:Cholesterol; D000217:Acyltransferases
En enzymatisk defekt i kolesterolforestringen. Enkelte sider av kolesterol-metabolismen belyst ved undersøkelser av en ny-oppdaget familiaer metabolsk sykdom.