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ALLMedicine™ Alg2-cdg Center

Research & Reviews  2 results

Ten years of screening for congenital disorders of glycosylation in Argentina: case stu...
Pediatric Research; Asteggiano CG, Papazoglu M et. al.

Nov 7th, 2018 - Congenital Disorders of Glycosylation (CDG) are genetic diseases caused by hypoglycosylation of glycoproteins and glycolipids. Most CDG are multisystem disorders with mild to severe involvement. We studied 554 patients (2007-2017) with a clinical ...


Jul 1st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79326 Definition A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract...

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