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
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
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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