Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

Abstract

Diagnostic Working Group reviewed data generated using the new methods, and reached a consensus regarding the application of the reliable methods for the laboratory diagnosis of Pompe disease.

Keywords

• pompe disease
• glycogen storage disease type II
• acid maltase deficiency
• diagnosis
• lysosomal acid alpha-glucosidase
• enzyme assay
• acarbose