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About 10 results

ALLMedicine™ Alg1-cdg Center

Research & Reviews  5 results

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789416
Orphanet Journal of Rare Diseases; Bogdańska A, Lipiński P et. al.

Jan 7th, 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.
https://doi.org/10.1080/01443615.2020.1786031
Journal of Obstetrics and Gynaecology : the Journal of Th... Lei YL, Zhen L et. al.

Aug 18th, 2020 - Foetal phenotype of ALG1-CDG caused by paternal uniparental disomy 16.|2020|Lei YL,Zhen L,Xu LL,Yang YD,Li DZ,|

ALG1-CDG (CDG-Ik)
https://rarediseases.info.nih.gov/diseases/9838/alg1-cdg-cdg-ik

Jun 30th, 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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822552
Journal of Inherited Metabolic Disease; Bengtson P, Ng BG et. al.

Sep 3rd, 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...

ALG1-CDG: a new case with early fatal outcome.
https://doi.org/10.1016/j.gene.2013.10.013
Gene Rohlfing AK, Rust S et. al.

Oct 25th, 2013 - Congenital disorders of glycosylation (CDG) are a growing group of inherited metabolic disorders where enzymatic defects in the formation or processing of glycolipids and/or glycoproteins lead to variety of different diseases. The deficiency of GD...

see more →

Clinicaltrials.gov  5 results

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789416
Orphanet Journal of Rare Diseases; Bogdańska A, Lipiński P et. al.

Jan 7th, 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.
https://doi.org/10.1080/01443615.2020.1786031
Journal of Obstetrics and Gynaecology : the Journal of Th... Lei YL, Zhen L et. al.

Aug 18th, 2020 - Foetal phenotype of ALG1-CDG caused by paternal uniparental disomy 16.|2020|Lei YL,Zhen L,Xu LL,Yang YD,Li DZ,|

ALG1-CDG (CDG-Ik)
https://rarediseases.info.nih.gov/diseases/9838/alg1-cdg-cdg-ik

Jun 30th, 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...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822552
Journal of Inherited Metabolic Disease; Bengtson P, Ng BG et. al.

Sep 3rd, 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...

ALG1-CDG: a new case with early fatal outcome.
https://doi.org/10.1016/j.gene.2013.10.013
Gene Rohlfing AK, Rust S et. al.

Oct 25th, 2013 - Congenital disorders of glycosylation (CDG) are a growing group of inherited metabolic disorders where enzymatic defects in the formation or processing of glycolipids and/or glycoproteins lead to variety of different diseases. The deficiency of GD...

see more →