Open access
Sep 2026
Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease
Background and Objectives Enzyme replacement therapy has not only significantly improved motor outcome and survival in patients with classic infantile Pompe disease, but also revealed previously unrecognized central nervous system (CNS) involvement. In this international study, involving patients from the Netherlands,...
M. C. Faraguna, Alexander Broomfield, S. Gasperini et al.
· Neurology: Genetics · 0 citations