title: Compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.
abstract: A 10 year old boy with abetalipoproteinaemia is reported. His mother and grandfather suffered from familial hypobetalipoproteinaemia, but his father had a normal lipoprotein profile. This is the first report of abetalipoproteinaemia resulting from compound heterozygosity for abetalipoproteinaemia and familial hypobetalipoproteinaemia.
authors.affiliation: Lipid Research Centre, Rambam Medical Centre, Haifa, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Keidar
authors.forename: A
authors.initials: A
authors.lastname: Etzioni
authors.forename: J G
authors.initials: JG
authors.lastname: Brook
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: M
authors.initials: M
authors.lastname: Aviram
mesh_terms: D000012:Abetalipoproteinemia / Q000235:genetics*; D001054:Apolipoproteins A / Q000097:blood; D001055:Apolipoproteins B / Q000097:blood; D002648:Child; D002784:Cholesterol / Q000097:blood; D006579:Heterozygote; D006801:Humans; D006995:Hypobetalipoproteinemias / Q000235:genetics*; D007009:Hypolipoproteinemias / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D001054:Apolipoproteins A; D001055:Apolipoproteins B; D002784:Cholesterol