Associated Papers
ALG13-Related Epilepsy: Current Insights and Future Research Directions.
Gao P et al.
Neurochemical Research, 2024
Case Report: Identification of Two Variants of ALG13 in Families With or Without Seizure and Binocular Strabismus: Phenotypic Spectrum Analysis.
Cai T et al.
Frontiers in Genetics, 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
A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.
Ji J et al.
Cold Spring Harbor Molecular Case Studies, 2019
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