×
About 8 results

ALLMedicine™ Alg9-cdg Center

Research & Reviews  3 results

Synergistic use of glycomics and single-molecule molecular inversion probes for identif...
https://doi.org/10.1002/jimd.12496
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 ...

Congenital disorders of glycosylation: The Saudi experience.
https://doi.org/10.1002/ajmg.a.38358
American Journal of Medical Genetics. Part A; Alsubhi S, Alhashem A et. al.

Jul 26th, 2017 - We retrospectively reviewed Saudi patients who had a congenital disorder of glycosylation (CDG). Twenty-seven Saudi patients (14 males, 13 females) from 13 unrelated families were identified. Based on molecular studies, the 27 CDG patients were cl...

ALG9-CDG (CDG-IL)
https://rarediseases.info.nih.gov/diseases/9839/alg9-cdg-cdg-il

Jul 1st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79328 Definition A form of congenital disorders of N-linked glycosylation characterized by progressive microcephal...

see more →