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About 8 results

ALLMedicine™ Alg11-cdg Center

Research & Reviews  3 results

A case of ALG11-congenital disorders of glycosylation diagnosed by post-mortem whole ex...
https://doi.org/10.1016/j.braindev.2022.07.005
Brain & Development; Arai Y, Okanishi T et. al.

Jul 31st, 2022 - Congenital disorders of glycosylation (CDG) are inherited inborn errors of metabolism due to abnormal protein and lipid glycosylation that present with multi-systemic manifestations. The heterogeneity of CDG poses a serious diagnostic challenge; t...

ALG11-CDG syndrome: Expanding the phenotype.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6426632
American Journal of Medical Genetics. Part A; Haanpää MK, Ng BG et. al.

Jan 25th, 2019 - ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation. We describe two unrelated patients with ...

ALG11-CDG (CDG-Ip)
https://rarediseases.info.nih.gov/diseases/12396/alg11-cdg-cdg-ip

Jul 1st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 280071 Definition A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (mi...

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