Ontology highlight
ABSTRACT:
SUBMITTER: Stok M
PROVIDER: S-EPMC7240064 | biostudies-literature | 2020 Jun
REPOSITORIES: biostudies-literature
Stok Merel M de Boer Helen H Huston Marshall W MW Jacobs Edwin H EH Roovers Onno O Visser Trudi P TP Jahr Holger H Duncker Dirk J DJ van Deel Elza D ED Reuser Arnold J J AJJ van Til Niek P NP Wagemaker Gerard G
Molecular therapy. Methods & clinical development 20200504
Pompe disease is an autosomal recessive lysosomal storage disorder characterized by progressive muscle weakness. The disease is caused by mutations in the acid α-glucosidase (GAA) gene. Despite the currently available enzyme replacement therapy (ERT), roughly half of the infants with Pompe disease die before the age of 3 years. Limitations of ERT are immune responses to the recombinant enzyme, incomplete correction of the disease phenotype, lifelong administration, and inability of the enzyme to ...[more]