Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression

Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous inborn errors of metabolism. At present, treatment is available for only one CDG, but potential treatments for the other CDG are on the horizon. It will be vitally important in clinical trials of such agents to have...

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Detalles Bibliográficos
Autores principales: Achouitar, Samira, Mohamed, Miski, Gardeitchik, Thatjana, Wortmann, Saskia B., Sykut-Cegielska, Jolanta, Ensenauer, Regina, de Baulny, Hélène Ogier, Õunap, Katrin, Martinelli, Diego, de Vries, Maaike, McFarland, Robert, Kouwenberg, Dorus, Theodore, Miranda, Wijburg, Frits, Grünewald, Stephanie, Jaeken, Jaak, Wevers, Ron A., Nijtmans, Leo, Elson, Joanna, Morava, Eva
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2011
Materias:
CDG - an Update
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232068/
https://www.ncbi.nlm.nih.gov/pubmed/21541726
http://dx.doi.org/10.1007/s10545-011-9325-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3232068/
https://www.ncbi.nlm.nih.gov/pubmed/21541726
http://dx.doi.org/10.1007/s10545-011-9325-5

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