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About 8 results

ALLMedicine™ Alg2-cdg Center

Research & Reviews  3 results

Synergistic use of glycomics and single-molecule molecular inversion probes for identif...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545396
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 ...

Ten years of screening for congenital disorders of glycosylation in Argentina: case stu...
https://doi.org/10.1038/s41390-018-0206-6
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 ...

ALG2-CDG (CDG-Ii)
https://rarediseases.info.nih.gov/diseases/9836/alg2-cdg-cdg-ii

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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