Associated Papers
Rescue of common and rare exon 2 skipping variants of the GAA gene using modified U1 snRNA.
Peruzzo P et al.
Molecular Medicine (cambridge, Mass.), 2025
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
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