title: [Remnant disease associated with apoprotein E1; clinical importance of apoprotein E (apo E) phenotypes].
abstract: The diagnosis of type III hyperlipoproteinemia, or remnant disease, is greatly facilitated by the determination of the apoprotein E (apo E) phenotype. The disease is associated, in over 90% of the documented cases, with homozygosity for the E2 isoform of apo E. Phenotyping apo E directly from plasma offers certain advantages as compared to phenotyping from very low density lipoprotein samples. Elaboration of such a procedure in our laboratory allowed us to detect a rare isoform of apo E, apo E1, which was associated with remnant disease in 3 patients.
authors.affiliation: Division de diabétologie, Hôpital cantonal universitaire, Genève.
authors.forename: I
authors.initials: I
authors.lastname: Borghini
authors.forename: R W
authors.initials: RW
authors.lastname: James
authors.forename: D
authors.initials: D
authors.lastname: Pometta
mesh_terms: D000328:Adult; D001057:Apolipoproteins E / Q000097:blood* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000097:blood* / Q000235:genetics; D007525:Isoelectric Focusing; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D010641:Phenotype
chemical_list: D001057:Apolipoproteins E; D008079:Lipoproteins, VLDL; C040661:apolipoprotein E1
vernacular_title: "Maladie des remnants" ("Remnants disease") associée à l'apoprotéine E1; importance clinique des phénotypes de l'aproprotéine E (apo E).