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About 13 results

ALLMedicine™ Alg13-cdg Center

Research & Reviews  5 results

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expan...
https://doi.org/10.1002/jimd.12378
Journal of Inherited Metabolic Disease; Alsharhan H, He M et. al.

Mar 19th, 2021 - Pathogenic variants in ALG13 (ALG13 UDP-N-acetylglucosaminyltransferase subunit) cause an X-linked congenital disorder of glycosylation (ALG13-CDG) where individuals have variable clinical phenotypes that include developmental delay, intellectual ...

Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation:...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7789416
Orphanet Journal of Rare Diseases; Bogdańska A, Lipiński P et. al.

Jan 8th, 2021 - Congenital disorders of glycosylation (CDG) result from defects in the synthesis of glycans and the attachment of glycans to proteins and lipids. Our study aimed to describe the clinical, biochemical, and molecular findings of CDG patients, and to...

Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinica...
https://doi.org/10.1002/jimd.12290
Journal of Inherited Metabolic Disease; Ng BG, Eklund EA et. al.

Jul 18th, 2020 - ALG13 encodes a non-redundant, highly conserved, X-linked UDP-N-Acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of earl...

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin...
https://doi.org/10.1002/ajmg.a.38377
American Journal of Medical Genetics. Part A; Gadomski TE, Bolton M et. al.

Aug 5th, 2017 - ALG13-CDG has been recently discovered as a disorder of severe developmental, intellectual and speech disability, microcephaly, visual abnormalities, seizures, hepatomegaly, coagulation abnormalities, and abnormal serumtransferrin isoelectric focu...

ALG13-CDG
https://rarediseases.info.nih.gov/diseases/12401/alg13-cdg

Jul 1st, 2016 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 324422 Definition A form of congenital disorders of N-linked glycosylation characterized by microcephaly, hepatome...

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