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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...

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Bibliographische Detailangaben
Hauptverfasser: Péanne, Romain (VerfasserIn) , Thiel, Christian (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: [2018]
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
Volltext
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

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