1. Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease;Roig-Zamboni;Nat Commun,2017
2. Characterization of the human lysosomal alpha-glucosidase gene;Hoefsloot;Biochem J,1990
3. Pompe disease: pathogenesis, molecular genetics and diagnosis;Taverna;Aging (Albany NY),2020
4. Pompe disease GAA variant database https://www.pompevariantdatabase.nl/.
5. Enzyme replacement therapy for infantile-onset Pompe disease;Chen;Cochrane Database Syst Rev,2017