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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
Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Rujano, Maria A.; Cannata Serio, Magda; Panasyuk, Ganna; et al.
The Journal of Experimental Medicine, 04-12-2017, 214 (12), 3707-3729

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
Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies

Haouari, Walid; Dubail, Johanne; Lounis‐Ouaras, Samra; et al.
Journal of Inherited Metabolic Disease, Wiley, 07-08-2020, 43 (6), 1349-1359

Article dans une revue scientifique