Our Experience with Diagnostics of Congenital Disorders of Glycosylation
| Autor: | Ziad Albahri, Eliška Marklová, Hubert Vaníček, Lenka Minxová, Petr Dědek, Sylva Skálová, Marika Talábová, Jaroslava Vávrová, Eva Rencová |
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| Jazyk: | angličtina |
| Rok vydání: | 2004 |
| Předmět: | |
| Zdroj: | Acta Medica, Vol 47, Iss 4, Pp 267-272 (2004) |
| Druh dokumentu: | article |
| ISSN: | 18059694 1211-4286 1805-9694 |
| DOI: | 10.14712/18059694.2018.103 |
| Popis: | 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 α1-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. |
| Databáze: | Directory of Open Access Journals |
| Externí odkaz: |
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