"Rencov\u00E1, Eva" . "V\u00E1vrov\u00E1, Jaroslava" . . "578568" . "S" . . . "4"^^ . . . "11150" . "Na\u0161e zku\u0161enost s diagnostikou vrozen\u00FDch poruch glykosylace"@cs . . "CZ - \u010Cesk\u00E1 republika" . "1211-4286" . . "9"^^ . "RIV/00216208:11150/04:00004442!RIV08-MSM-11150___" . "Our Experience with Diagnostics of Congenital Disorders of Glycosylation"@en . "RIV/00216208:11150/04:00004442" . "Our Experience with Diagnostics of Congenital Disorders of Glycosylation" . "Acta Medica (Hradec Kr\u00E1lov\u00E9)" . "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 alfa1-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. : Glycoproteins; Hypoglycosylation; Inborn errors; Screening; Methods" . "[E8F2013D9C2A]" . . . "Experience; Diagnostics; Congenital; Disorders; Glycosylation"@en . "D\u011Bdek, Petr" . "Na\u0161e zku\u0161enost s diagnostikou vrozen\u00FDch poruch glykosylace"@cs . "Our Experience with Diagnostics of Congenital Disorders of Glycosylation"@en . . "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 alfa1-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. : Glycoproteins; Hypoglycosylation; Inborn errors; Screening; Methods"@en . "267;272" . . "C\u00EDlem t\u00E9to studie bylo podat zpr\u00E1vu o na\u0161\u00ED t\u0159\u00EDlet\u00E9 zku\u0161enosti se screeningem vrozen\u00FDch vad glykosylace. Pro anal\u00FDzu s\u00E9rov\u00E9ho transferrinu a alfa1-antitrypsinu byla pou\u017Eita b\u011B\u017En\u00E1 metoda isoelektrick\u00E9ho zaost\u0159en\u00ED s imunofixac\u00ED, nehled\u011B na n\u011Bkter\u00E9 dal\u0161\u00ED postupy. Byla vy\u0161et\u0159ena skupina asi 1000 osob, jak zdrav\u00FDch tak pacient\u016F, v\u011Bt\u0161inou se znaky metabolick\u00E9ho onemocn\u011Bn\u00ED. V t\u00E9to pr\u00E1ci prezentujeme p\u0159ehled: 1) n\u00E1lez\u016F hypoglykosylace, 2) distribuce variant protein\u016F, 3) vz\u00E1cn\u00E9 chybn\u00E9 Tf varianty nalezen\u00E9 v na\u0161em souboru a 4) asociaci n\u011Bkter\u00FDch fenotyp\u016F s r\u016Fzn\u00FDmi chorobami."@cs . . . "4" . . "Our Experience with Diagnostics of Congenital Disorders of Glycosylation" . . . . "Marklov\u00E1, Eli\u0161ka" . "6"^^ . "47" . . .