TY - JOUR AU - Puertollano, Rosa AU - Raben, Nina PY - 2018 TI - Pompe disease: how to solve many problems with one solution JF - Annals of Translational Medicine; Vol 6, No 15 (August 08, 2018): Annals of Translational Medicine (Focus on "Cardiovascular Disease and Cardiometabolic Risk: Advances in Understanding Pathophysiology, Public Health Burden and Clinical Care") Y2 - 2018 KW - N2 - Glycogen storage disease type II (GSDII) is a rare and often fatal neuromuscular disorder caused by a defect in the gene for acid α-glucosidase (GAA), a lysosomal enzyme that metabolizes glycogen to glucose. UR - https://atm.amegroups.org/article/view/20326