Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients

Por Vuillaumier-Barro..., S., Hetet, G., Barnier, A., Dupre, T., Cuer, M., de Lonlay, P., Cormier-Daire, V., Durand, G., Grandchamp, B., Seta, N.
Publicado em 2000

Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib

Por Vuillaumier-Barro..., S, Le Bizec, C, de Lonlay, P, Barnier, A, Mitchell, G, Pelletier, V, Prevost, C, Saudubray, J, Durand, G, Seta, N
Publicado em 2002