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Download the following material to learn more about Pompe disease.

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Diagnosing Pompe Disease & U.S. Lab List (PDF)

Ask a Medical Question

Genzyme Medical Information can answer questions about Pompe disease.

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Find Diagnostic Labs

Get a list of laboratories that can perform enzyme assays and other useful tests to aid in the diagnosis of Pompe disease.

Download Lab List 
(Intended for the U.S. only)

Pompe Registry

Find out about the Pompe Registry, an ongoing, observational database that tracks natural history and outcomes of patients with Pompe disease.

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