Associated Papers
Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.
Moschetti M et al.
International Journal of Molecular Sciences, 2024
Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.
Kim MS et al.
Korean Journal of Pediatrics, 2019
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
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