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Statements

Subject Item
n2:RIV%2F00216208%3A11150%2F04%3A00004442%21RIV08-MSM-11150___
rdf:type
n4:Vysledek skos:Concept
dcterms:description
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 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 Cílem této studie bylo podat zprávu o naší tříleté zkušenosti se screeningem vrozených vad glykosylace. Pro analýzu sérového transferrinu a alfa1-antitrypsinu byla použita běžná metoda isoelektrického zaostření s imunofixací, nehledě na některé další postupy. Byla vyšetřena skupina asi 1000 osob, jak zdravých tak pacientů, většinou se znaky metabolického onemocnění. V této práci prezentujeme přehled: 1) nálezů hypoglykosylace, 2) distribuce variant proteinů, 3) vzácné chybné Tf varianty nalezené v našem souboru a 4) asociaci některých fenotypů s různými chorobami.
dcterms:title
Naše zkušenost s diagnostikou vrozených poruch glykosylace Our Experience with Diagnostics of Congenital Disorders of Glycosylation Our Experience with Diagnostics of Congenital Disorders of Glycosylation
skos:prefLabel
Our Experience with Diagnostics of Congenital Disorders of Glycosylation Naše zkušenost s diagnostikou vrozených poruch glykosylace Our Experience with Diagnostics of Congenital Disorders of Glycosylation
skos:notation
RIV/00216208:11150/04:00004442!RIV08-MSM-11150___
n3:strany
267;272
n3:aktivita
n14:S
n3:aktivity
S
n3:cisloPeriodika
4
n3:dodaniDat
n16:2008
n3:domaciTvurceVysledku
n5:8228973 n5:9349162 n5:1290177 n5:8575541
n3:druhVysledku
n15:J
n3:duvernostUdaju
n11:S
n3:entitaPredkladatele
n6:predkladatel
n3:idSjednocenehoVysledku
578568
n3:idVysledku
RIV/00216208:11150/04:00004442
n3:jazykVysledku
n17:eng
n3:klicovaSlova
Experience; Diagnostics; Congenital; Disorders; Glycosylation
n3:klicoveSlovo
n7:Diagnostics n7:Experience n7:Congenital n7:Disorders n7:Glycosylation
n3:kodStatuVydavatele
CZ - Česká republika
n3:kontrolniKodProRIV
[E8F2013D9C2A]
n3:nazevZdroje
Acta Medica (Hradec Králové)
n3:obor
n13:FG
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
9
n3:rokUplatneniVysledku
n16:2004
n3:svazekPeriodika
47
n3:tvurceVysledku
Rencová, Eva Vávrová, Jaroslava Dědek, Petr Marklová, Eliška
s:issn
1211-4286
s:numberOfPages
6
n8:organizacniJednotka
11150