Familial hypobetalipoproteinaemia in 9 children diagnosed as the result of cord blood screening for hypolipoproteinaemia in 10 000 Danish newborns.
Out of 10 440 children, 266 with low (less than 2.5 centile) values for very low-low density lipoproteins in cord serum were chosen to be followed up to find out how many came from families with familial hypobetalipoproteinaemia (FHBL). In 176 families (66% of 266 families), FHBL was diagnosed in 9 children and their families.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002784:Cholesterol / Q000097:blood; D003718:Denmark; D005260:Female; D005312:Fetal Blood / Q000032:analysis; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000175:diagnosis / Q000235:genetics*; D007009:Hypolipoproteinemias / Q000453:epidemiology / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D008055:Lipids / Q000097:blood; D008077:Lipoproteins, LDL / Q000097:blood; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D008403:Mass Screening; D010375:Pedigree
D008055:Lipids; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; D002784:Cholesterol