About: Our Experience with Diagnostics of Congenital Disorders of Glycosylation     Goto   Sponge   NotDistinct   Permalink

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Description
  • 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. (cs)
  • 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 (en)
Title
  • Our Experience with Diagnostics of Congenital Disorders of Glycosylation
  • Our Experience with Diagnostics of Congenital Disorders of Glycosylation (en)
  • Naše zkušenost s diagnostikou vrozených poruch glykosylace (cs)
skos:prefLabel
  • Our Experience with Diagnostics of Congenital Disorders of Glycosylation
  • Our Experience with Diagnostics of Congenital Disorders of Glycosylation (en)
  • Naše zkušenost s diagnostikou vrozených poruch glykosylace (cs)
skos:notation
  • RIV/00216208:11150/04:00004442!RIV08-MSM-11150___
http://linked.open.../vavai/riv/strany
  • 267;272
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • S
http://linked.open...iv/cisloPeriodika
  • 4
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
http://linked.open.../riv/druhVysledku
http://linked.open...iv/duvernostUdaju
http://linked.open...titaPredkladatele
http://linked.open...dnocenehoVysledku
  • 578568
http://linked.open...ai/riv/idVysledku
  • RIV/00216208:11150/04:00004442
http://linked.open...riv/jazykVysledku
http://linked.open.../riv/klicovaSlova
  • Experience; Diagnostics; Congenital; Disorders; Glycosylation (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • CZ - Česká republika
http://linked.open...ontrolniKodProRIV
  • [E8F2013D9C2A]
http://linked.open...i/riv/nazevZdroje
  • Acta Medica (Hradec Králové)
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 47
http://linked.open...iv/tvurceVysledku
  • Dědek, Petr
  • Marklová, Eliška
  • Rencová, Eva
  • Vávrová, Jaroslava
issn
  • 1211-4286
number of pages
http://localhost/t...ganizacniJednotka
  • 11150
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