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Article

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

3 May 2011

Abstract excerpt

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 a clear understanding of both the natural history of CDG and the corresponding burden of disability suffered by...

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PMID: 21541726
DOI: 10.1007/s10545-011-9325-5

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