Congenital disorders of glycosylation (CDG): quo vadis?
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to inv...
Gespeichert in:
| Hauptverfasser: | , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
[2018]
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| In: |
European journal of medical genetics
Year: 2017, Jahrgang: 61, Heft: 11, Pages: 643-663 |
| ISSN: | 1878-0849 |
| DOI: | 10.1016/j.ejmg.2017.10.012 |
| Online-Zugang: | Verlag, Volltext: https://doi.org/10.1016/j.ejmg.2017.10.012 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S1769721217304949 
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| Verfasserangaben: | Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J. Lefeber, Eva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken |
| Zusammenfassung: | The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific biomarkers are needed for fast CDG diagnosis and treatment monitoring. Whole genome sequencing will play an increasingly important role in the molecular diagnosis of unsolved CDG. Epigenetic defects are expected to join the rapidly expanding genetic and allelic heterogeneity of the CDG family. Novel treatments are urgently needed particularly for PMM2-CDG, the most prevalent CDG. Patient services such as apps should be developed e.g. to document the natural history and monitor treatment. Networking (EURO-CDG, the European Reference Networks (MetabERN)) is an efficient tool to disseminate knowledge and boost collaboration at all levels. The final goal is of course to improve the quality of life of the patients and their families. |
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| Beschreibung: | Available online: 25 October 2017 Gesehen am 10.02.2020 |
| Beschreibung: | Online Resource |
| ISSN: | 1878-0849 |
| DOI: | 10.1016/j.ejmg.2017.10.012 |