| Autor: |
Heli, Sätilä, Anna-Leena, Kuusela, Kati, Pietilä, Harri, Niinikoski, Päivi, Keskinen |
| Rok vydání: |
2016 |
| Předmět: |
|
| Zdroj: |
Duodecim; laaketieteellinen aikakauskirja. 132(3) |
| ISSN: |
0012-7183 |
| Popis: |
Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral nervous system, but other organ systems are involved as well. Type CDG Ia accounts for over 80% of cases, characterized by decreased activity of the enzyme phosphomannomutase caused by mutations in chromosome 16 PMM2 gene. Treatment of CDG Ia remains symptomatic. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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