title: Familial hypobetalipoproteinaemia in 9 children diagnosed as the result of cord blood screening for hypolipoproteinaemia in 10 000 Danish newborns.
abstract: 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.
mesh_terms: 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
chemical_list: D008055:Lipids; D008077:Lipoproteins, LDL; D008079:Lipoproteins, VLDL; D002784:Cholesterol