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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.

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(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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