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About 13 results

ALLMedicine™ Alg12-cdg Center

Research & Reviews  5 results

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of o...
https://doi.org/10.1002/ajmg.a.62474
American Journal of Medical Genetics. Part A; Ziburová J, Nemčovič M et. al.

Sep 2nd, 2021 - Congenital disorder of glycosylation type Ig (ALG12-CDG) is a rare inherited metabolic disease caused by a defect in alpha-mannosyltransferase 8, encoded by the ALG12 gene (22q13.33). To date, only 15 patients have been diagnosed with ALG12-CDG gl...

Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
https://doi.org/10.1016/j.braindev.2021.05.013
Brain & Development; Hiraide T, Wada Y et. al.

Jun 8th, 2021 - ALG12-CDG is a rare autosomal recessive type I congenital disorder of glycosylation (CDG) due to pathogenic variants in ALG12 which encodes the dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase. Thirteen patients from unrel...

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, a...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434597
Molecular Genetics & Genomic Medicine; de la Morena-Barrio ME, Sabater M et. al.

Jun 13th, 2020 - Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple pro...

Immunological aspects of congenital disorders of glycosylation (CDG): a review.
https://doi.org/10.1007/s10545-016-9954-9
Journal of Inherited Metabolic Disease; Monticelli M, Ferro T et. al.

Jul 10th, 2016 - Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases comprising more than 85 known distinct disorders. They show a great phenotypic variability ranging from multi-organ/system to mono-organ/system involvemen...

ALG12-CDG (CDG-Ig)
https://rarediseases.info.nih.gov/diseases/9833/alg12-cdg-cdg-ig

Jul 1st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79324 Definition A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (pro...

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