Prenatal diagnosis of the cerebro-hepato-renal (Zellweger) syndrome by detection of an impaired plasmalogen biosynthesis.
D000217:Acyltransferases / Q000172:deficiency*; D005260:Female; D006529:Hepatomegaly / Q000151:congenital / Q000175:diagnosis; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000151:congenital / Q000175:diagnosis*; D008107:Liver Diseases / Q000151:congenital*; D008830:Microbodies / Q000201:enzymology; D010955:Plasmalogens / Q000096:biosynthesis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome
D010955:Plasmalogens; D000217:Acyltransferases; C020051:glycerone-phosphate O-acyltransferase