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Citation: T. Dupre et al., Congenital disorder of glycosylation ia with deficient phosphomannomutase activity but normal plasma glycoprotein pattern, CLIN CHEM, 47(1), 2001, pp. 132-134

Authors: Dupre, T Barnier, A de Lonlay, P Cormier-Daire, V Durand, G Codogno, P Seta, N

Citation: T. Dupre et al., Defect in N-glycosylation of proteins is tissue-dependent in congenital disorders of glycosylation Ia, GLYCOBIOLOG, 10(12), 2000, pp. 1277-1281

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Citation: S. Vuillaumier-barrot et al., Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients, J MED GENET, 37(8), 2000, pp. 579-580

Authors: Cuer, M Barnier, A de la Salmoniere, P Durand, G Seta, N

Citation: M. Cuer et al., Fluorimetric measurement of plasma alpha-L-fucosidase activity with a centrifugal analyzer: Reference values in a healthy French adult population, CLIN CHEM, 46(4), 2000, pp. 562-564