Neonatal familial hypobeta-lipoproteinemia.
A kindred with four generation vertical transmission of familial hypobeta-lipoproteinemia was ascertained by measurement of low levels of cord blood low density lipoprotein cholesterol (C-LDL) in a propositus neonate. Measurement of cord blood C-LDL in conjunction with family studies allows the neonatal diagnosis of familial hypobetalipoproteinemia.
D000328:Adult; D000368:Aged; D002648:Child; D002784:Cholesterol / Q000097:blood; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics*; D008077:Lipoproteins, LDL / Q000032:analysis / Q000097:blood / Q000172:deficiency*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D014280:Triglycerides / Q000097:blood
D008077:Lipoproteins, LDL; D014280:Triglycerides; D002784:Cholesterol