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About 6 results

ALLMedicine™ Alg12-cdg Center

Research & Reviews  3 results

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, a...
https://doi.org/10.1002/mgg3.1304
Molecular Genetics & Genomic Medicine REFERENCES; de la Morena-Barrio ME, Sabater M et. al.

Jun 11th, 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 9th, 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

Jun 30th, 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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Clinicaltrials.gov  3 results

ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, a...
https://doi.org/10.1002/mgg3.1304
Molecular Genetics & Genomic Medicine REFERENCES; de la Morena-Barrio ME, Sabater M et. al.

Jun 11th, 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 9th, 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

Jun 30th, 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...

see more →