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About 15 results

ALLMedicine™ Alg13-cdg Center

Research & Reviews  6 results

Synergistic use of glycomics and single-molecule molecular inversion probes for identif...
https://doi.org/10.1002/jimd.12496
Journal of Inherited Metabolic Disease; Abu Bakar N, Ashikov A et. al.

Mar 14th, 2022 - Congenital disorders of glycosylation type 1 (CDG-I) comprise a group of 27 genetic defects with heterogeneous multisystem phenotype, mostly presenting with nonspecific neurological symptoms. The biochemical hallmark of CDG-I is a partial absence ...

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expan...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8720508
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://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722193
Journal of Inherited Metabolic Disease; Ng BG, Eklund EA et. al.

Jul 19th, 2020 - Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linke...

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...

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