title: Carbohydrate deficient glycoprotein (CDG) syndrome type I.
authors.affiliation: Department of Paediatrics, University Hospital Gasthuisberg, Leuven, Belgium.
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: R
authors.initials: R
authors.lastname: Barone
authors.forename: H
authors.initials: H
authors.lastname: Carchon
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000293:Adolescent; D002081:Buttocks / Q000002:abnormalities*; D002478:Cells, Cultured; D018981:Congenital Disorders of Glycosylation / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005347:Fibroblasts; D006023:Glycoproteins / Q000097:blood; D006801:Humans; D008297:Male; D009558:Nipples / Q000002:abnormalities*; D009679:Nuclear Family
chemical_list: D006023:Glycoproteins