title: Our experience with diagnostics of congenital disorders of glycosylation.
abstract: The aim of this study is to report our 3years experience with the screening of congenital disorders of glycosylation. A common isoelectric focusing method with immunofixation was used for analysis of serum transferrin and alpha1-antitrypsin, apart from several other procedures. A group of about 1000 individuals, both healthy controls and patients, mostly with signs of a metabolic disease were examined. Here we present an overview of (1) hypoglycosylation findings, (2) distribution of protein variants, (3) misguiding rare Tf variants found in our set, and (4) association of some phenotypes with various diseases.
authors.affiliation: Charles University in Prague, Faculty of Medicine in Hradec Králové, Czech Republic.
authors.forename: Albahri
authors.initials: A
authors.lastname: Ziad
authors.forename: Marklová
authors.initials: M
authors.lastname: Eliska
authors.forename: Vanícek
authors.initials: V
authors.lastname: Hubert
authors.forename: Minxová
authors.initials: M
authors.lastname: Lenka
authors.forename: Dedek
authors.initials: D
authors.lastname: Petr
authors.forename: Skálová
authors.initials: S
authors.lastname: Sylva
authors.forename: Talábová
authors.initials: T
authors.lastname: Marika
authors.forename: Vávrová
authors.initials: V
authors.lastname: Jaroslava
authors.forename: Rencová
authors.initials: R
authors.lastname: Eva
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002648:Child; D002675:Child, Preschool; D006023:Glycoproteins / Q000378:metabolism; D006031:Glycosylation; D006801:Humans; D007223:Infant; D007525:Isoelectric Focusing; D008875:Middle Aged; D014168:Transferrin / Q000032:analysis; D000515:alpha 1-Antitrypsin / Q000032:analysis
chemical_list: D015415:Biomarkers; D006023:Glycoproteins; D014168:Transferrin; D000515:alpha 1-Antitrypsin