Associated Papers
ALG13-Related Epilepsy: Current Insights and Future Research Directions.
Gao P et al.
Neurochemical Research, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Shah R et al.
Molecular Genetics and Metabolism, 2024
Long-term outcomes in ALG13-Congenital Disorder of Glycosylation.
Shah R et al.
American Journal of Medical Genetics. Part A, 2023
Could distal variants in ALG13 lead to atypical clinical presentation?
Accogli A et al.
European Journal of Medical Genetics, 2022
Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.
Mitusińska K et al.
Biomolecules, 2022
An in vitro assay for enzymatic studies on human ALG13/14 heterodimeric UDP-N-acetylglucosamine transferase.
Wang CD et al.
Frontiers in Cell and Developmental Biology, 2022
ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan H et al.
Journal of Inherited Metabolic Disease, 2021
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Ng BG et al.
Journal of Inherited Metabolic Disease, 2020
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
30019023 (PubMed )
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