Pompe Disease Registry Protocol

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Not specified
This study is NOT accepting healthy volunteers
Inclusion Criteria:
All patients with a confirmed diagnosis of Pompe disease who have signed the informed consent and authorization form(s) are eligible for inclusion. Confirmed diagnosis is defined as documented GAA enzyme deficiency from blood, skin, or muscle tissue and/or documentation of 2 GAA gene mutations.
Exclusion Criteria:
There are no exclusion criteria in this Registry

Glycogen Storage Disease Type II, Pompe Disease

Glycogen Storage Disease Type II (GSD-II), GSD-II, Pompe Disease, Pompe Disease (late-onset), Acid Maltase Deficiency Disease, Glycogenosis II
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