About 13 results

ALLMedicine™ Alg1-cdg Center

Research & Reviews  5 results

Synergistic use of glycomics and single-molecule molecular inversion probes for identif...
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 ...

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation:...
Orphanet Journal of Rare Diseases; Bogdańska A, Lipiński P et. al.

Jan 8th, 2021 - Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and molecular findings of CDG patients, and to...

Foetal phenotype of ALG1-CDG caused by paternal uniparental disomy 16.
Journal of Obstetrics and Gynaecology : the Journal of Th... Lei YL, Zhen L et. al.

Aug 20th, 2020 - Foetal phenotype of ALG1-CDG caused by paternal uniparental disomy 16.|2020|Lei YL,Zhen L,Xu LL,Yang YD,Li DZ,|diagnosis,etiology,genetics,genetics,etiology,diagnosis,


Jul 1st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79327 Definition A severe form of congenital disorders of N-linked glycosylation characterized by severe developme...

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of...
Journal of Inherited Metabolic Disease; Bengtson P, Ng BG et. al.

Sep 4th, 2015 - ALG1-CDG (formerly CDG-Ik) is a subtype of congenital disorders of glycosylation (CDG) where the genetic defect disrupts the synthesis of the lipid-linked oligosaccharide precursor required for N-glycosylation. The initial step in the investigatio...

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