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About 10 results

ALLMedicine™ Alg8-cdg Center

Research & Reviews  5 results

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanatio...
https://doi.org/10.1038/s41390-018-0231-5
Pediatric Research; Vuillaumier-Barrot S, Schiff M et. al.

Nov 13th, 2018 - Congenital disorders of glycosylation (CDG) includes ALG8 deficiency, a protein N-glycosylation defect with a broad clinical spectrum. If most of the 15 previously reported patients present an early-onset multisystem severe disease and early death...

ALG8-CDG (CDG-Ih)
https://rarediseases.info.nih.gov/diseases/9834/alg8-cdg-cdg-ih

Jun 30th, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79325 Definition A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestina...

ALG8-CDG: novel patients and review of the literature.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504351
Orphanet Journal of Rare Diseases; Höck M, Wegleiter K et. al.

Jun 12th, 2015 - Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ALG8-CDG (= CDG-Ih) is one of the less frequently reported types of CDG, maybe due to its severe ...

Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in...
https://doi.org/10.1111/pde.12233
Pediatric Dermatology; Kouwenberg D, Gardeitchik T et. al.

Feb 20th, 2014 - Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. Proper glycosylation is essential for normal protein structure, function, and trafficking. Mutations in the glycosylation pathway lead to a phenotypically heter...

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations ...
https://doi.org/10.1016/j.ejmg.2012.01.003
European Journal of Medical Genetics; Sorte H, Mørkrid L et. al.

Feb 6th, 2012 - Posttranslationally glycosylated proteins are important in many biological processes in humans and Congenital disorders of glycosylation (CDGs) are associated with a broad range of phenotypes. Type I CDGs are a group of rare autosomal recessive co...

see more →

Clinicaltrials.gov  5 results

Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanatio...
https://doi.org/10.1038/s41390-018-0231-5
Pediatric Research; Vuillaumier-Barrot S, Schiff M et. al.

Nov 13th, 2018 - Congenital disorders of glycosylation (CDG) includes ALG8 deficiency, a protein N-glycosylation defect with a broad clinical spectrum. If most of the 15 previously reported patients present an early-onset multisystem severe disease and early death...

ALG8-CDG (CDG-Ih)
https://rarediseases.info.nih.gov/diseases/9834/alg8-cdg-cdg-ih

Jun 30th, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79325 Definition A form of congenital disorders of N-linked glycosylation that is characterized by gastrointestina...

ALG8-CDG: novel patients and review of the literature.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4504351
Orphanet Journal of Rare Diseases; Höck M, Wegleiter K et. al.

Jun 12th, 2015 - Since 1980, about 100 types of congenital disorders of glycosylation (CDG) have been reported representing an expanding group of inherited disorders. ALG8-CDG (= CDG-Ih) is one of the less frequently reported types of CDG, maybe due to its severe ...

Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in...
https://doi.org/10.1111/pde.12233
Pediatric Dermatology; Kouwenberg D, Gardeitchik T et. al.

Feb 20th, 2014 - Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. Proper glycosylation is essential for normal protein structure, function, and trafficking. Mutations in the glycosylation pathway lead to a phenotypically heter...

Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations ...
https://doi.org/10.1016/j.ejmg.2012.01.003
European Journal of Medical Genetics; Sorte H, Mørkrid L et. al.

Feb 6th, 2012 - Posttranslationally glycosylated proteins are important in many biological processes in humans and Congenital disorders of glycosylation (CDGs) are associated with a broad range of phenotypes. Type I CDGs are a group of rare autosomal recessive co...

see more →