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Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation Defects
The Journal of clinical endocrinology and metabolism, 01-04-2017, 102 (4), 1375-1386Article dans une revue scientifique -
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects
The Journal of Experimental Medicine, 04-12-2017, 214 (12), 3707-3729Article dans une revue scientifiquefulltext