ALLMedicine™ Alg2-cdg Center
Research & Reviews 3 results
Journal of Inherited Metabolic Disease; Abu Bakar N, Ashikov A et. al.
Mar 14th, 2022 - Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurological symptoms. The biochemical hallmark of CDG-I is a partial absence ...
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...