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About 5 results

ALLMedicine™ Alg8-cdg (cdg-ih) Center

Research & Reviews  2 results

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...

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...

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