%0 Journal Article
%T Molecular genetics of Pompe disease: a comprehensive overview
%A Andrea Dardis
%A Eleonora Pavan
%A Paolo Peruzzo
%J Archive of "Annals of Translational Medicine".
%D 2019
%R 10.21037/atm.2019.04.13
%K Pompe disease
%K GAA mutations
%K phenotype/genotype correlation
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642931/