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ALLMedicine™ Alg8-cdg Center

Research & Reviews  4 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 14th, 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

Jul 1st, 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...

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 21st, 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 7th, 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...

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