title: Transferrin protein variant mimicking carbohydrate-deficient glycoprotein syndrome in trisomy 7 mosaicism.
authors.affiliation: Department of Pediatrics, Rambam Medical Center, Technion Faculty of Medicine, Haifa, Israel.
authors.forename: C
authors.initials: C
authors.lastname: Knopf
authors.forename: R
authors.initials: R
authors.lastname: Rod
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: M
authors.initials: M
authors.lastname: Berant
authors.forename: E
authors.initials: E
authors.lastname: Van Schaftingen
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: R
authors.initials: R
authors.lastname: Brill-Zamir
authors.forename: R
authors.initials: R
authors.lastname: Gershoni-Baruch
authors.forename: S
authors.initials: S
authors.lastname: Lischinsky
authors.forename: H
authors.initials: H
authors.lastname: Mandel
mesh_terms: D002675:Child, Preschool; D002897:Chromosomes, Human, Pair 7; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000503:physiopathology; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti; D007525:Isoelectric Focusing; D008359:Mannose-6-Phosphate Isomerase / Q000378:metabolism; D009030:Mosaicism; D017875:Phosphotransferases (Phosphomutases) / Q000378:metabolism; D020033:Protein Isoforms / Q000032:analysis; D014168:Transferrin / Q000032:analysis*; D014314:Trisomy; D000515:alpha 1-Antitrypsin / Q000032:analysis; D001619:beta-N-Acetylhexosaminidases / Q000032:analysis
chemical_list: D020033:Protein Isoforms; D014168:Transferrin; D000515:alpha 1-Antitrypsin; D001619:beta-N-Acetylhexosaminidases; D008359:Mannose-6-Phosphate Isomerase; D017875:Phosphotransferases (Phosphomutases); C052799:phosphomannomutase