G. Uziel

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

G. Matthijs, R. Wevers, C. Thiel, 2016, Journal of Inherited Metabolic Disease.

Borderline mental development in a congenital disorder of glycosylation (CDG) type Ia patient with multisystemic involvement (intermediate phenotype)

D. Garozzo, R. Barone, J. Jaeken, 2007, Journal of Inherited Metabolic Disease.