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References from Two novel GAA missense variants and a known VUS in pompe disease: Functional characterization and pharmacological chaperone therapy. Local targets link to admitted publications; unresolved targets remain external evidence.
A comprehensive update on late-onset pompe disease
10.3390/biom13091279 · 2023 · External reference
Broad variation in phenotypes for common GAA genotypes in Pompe disease
10.1002/humu.24272 · 2021 · External reference
Diagnostic delay in late-onset Pompe disease among Chinese patients: a retrospective study
2024 · External reference
Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase
10.1016/j.jbc.2021.100769 · 2021 · External reference
Carnitine is a pharmacological allosteric chaperone of the human lysosomal α-glucosidase
10.1080/14756366.2021.1975694 · 2021 · External reference
