For U.S. Healthcare Professionals Only

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Click the links below for educational resources on topics related to Pompe Disease.

Pompe Disease Summary: A brief synopsis of disease spectrum, diagnosis, and NBS algorithms in a one page brochure format.

Newborn Screening for Pompe Disease: Interactive Diagnostic Algorithm as Recommended by the Pompe Disease Newborn Screening Working Group

Pompe Disease 101: An overview of Pompe Disease, including pathophysiology, disease spectrum, challenges in diagnosis, and testing and disease registry resources for providers.

Pompe Patient Diagnosis App: Can you diagnose Pompe Disease? This self-guided, interactive activity allows healthcare providers to review clinical profiles for four different patients and select which patient(s) may have Pompe Disease. The activity includes additional resources on disease signs and symptoms, and a diagnosis algorithm.













Last Updated: Nov 20, 2019