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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)
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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)
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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)
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skos:notation
| - RIV/00216208:11150/04:00004442!RIV08-MSM-11150___
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http://linked.open.../vavai/riv/strany
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00216208:11150/04:00004442
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - Experience; Diagnostics; Congenital; Disorders; Glycosylation (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
| - Acta Medica (Hradec Králové)
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
| - Dědek, Petr
- Marklová, Eliška
- Rencová, Eva
- Vávrová, Jaroslava
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issn
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number of pages
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http://localhost/t...ganizacniJednotka
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