| Onderzoekslijn 102 |
 Congenital Disorders of Glycosylation (CDG syndrome) |
| Categorie |
Klinisch k. Erfelijke stofwisselingsziekten |
| Trefwoord 1 |
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| Trefwoord 2 |
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| Omschrijving |
Congenital defects of Glycosylation are a rapidly growing group of inborn errors of metabolism. These can affect glycoprotein and/or glycolipid metabolism. The research line addresses diagnostic techniques at the glycan-, the protein- or the gene level. Whole exome sequencing techniques are being applied. Also phenotypic descriptions, novel therapy approaches and follow-up of patients is addressed. |
| Onderzoeksleider laboratorium |
Em. Prof.dr. R.A.(Ron) Wevers |
| Mede-onderzoeksleiders |
Dr. D.J. Lefeber, Dr. E. Morava |
| Instituut |
Radboudumc Nijmegen |
| Periode |
1-2009 - 12-2015 |
| Projecten |
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