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Congenital disorders of glycosylation (CDG): Quo vadis ?

Péanne, Romain; De Lonlay, Pascale; Foulquier, Francois; et al.
European journal of medical genetics, 11-2018, 61 (11), 643-663

Article dans une revue scientifiquefulltext
Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects

Morelle, Willy; Potelle, Sven; Witters, Peter; et al.
The Journal of clinical endocrinology and metabolism, 01-04-2017, 102 (4), 1375-1386

Article dans une revue scientifique