Research article Open access
The Identification of Pompe Disease Mutations in Archival Tissues and Development of a Rapid Molecular-based Test
Objectives: Pompe disease (glycogen storage disease type II) is a rare autosomal recessive lysosomal storage disease that is caused by acid alpha-glucosidase deficiency. Early enzyme replacement therapy can benefit infants with the disease but the diagnosis is complicated by the rarity of the disease and the heterogene …