Inventors:
Hung V. Do - New Hope PA, US
Brian E. Rane - Somerset NJ, US
John Flanagan - East Windsor NJ, US
International Classification:
C12Q 1/34
Abstract:
Provided is a method for diagnosing Pompe disease in a patient by measuring acid α-glucosidase activity in a sample from the patient. The invention also provides a method for monitoring the treatment of Pompe disease with specific pharmacological chaperones by measuring acid α-glucosidase activity in a sample from the patient.