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Publication:

Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression (2011)

Author(s): Achouitar S, Mohamed M, Gardeitchik T, Wortmann SB, Sykut-Cegielska J, Ensenauer R, de Baulny HO, Ounap K, Martinelli D, de Vries M, McFarland R, Kouwenberg D, Theodore M, Wijburg F, Grunewald S, Jaeken J, Wevers RA, Nijtmans L, Elson J, Morava E

      • Date: 03-05-2011
      • Journal: Journal of Inherited Metabolic Disease
      • Volume: 34
      • Issue: 4
      • Pages: 923-927
      • Publisher: Springer
      • Publication type: Article
      • Bibliographic status: Published

      Keywords: MITOCHONDRIAL DISORDER CONGENITAL DISORDER GLYCOSYLATION CHILDREN ABNORMALITIES MUTATIONS DOLICHOL

      Staff

      Dr Joanna Elson

      Dr Bobby McFarland
      DoH/HEFCE Clinical Senior Lecturer and Consultant Paediatric Neurologist