Comprehensive description of the phenotype of the first case of congenital disorder of glycosylation due to RFT1 deficiency (CDG In)

By Clayton P.   Grunewald S.  

Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 137-139

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Congenital disorders of glycosylation (CDG): Update and new developments

By Jaeken J.  

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Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations

By Vega Ana   Pérez-Cerdá Celia   Abia David   Gámez Alejandra   Briones Paz   Artuch Rafael   Desviat Lourdes   Ugarte Magdalena   Pérez Belén  

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Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

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Journal of Inherited Metabolic Disease, Vol. 32, Iss. 1, 2009-12 ,pp. : 313-319

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Congenital disorder of glycosylation (CDG) type Ie. A new patient

By García-Silva M.   Matthijs G.   Schollen E.   Cabrera J.   del Pozo J.   Herreros M.   Simón R.   Maties M.   Hernández E.   Hennet T.   Briones P.  

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