Associated Papers
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
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
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
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