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Pompe Disease

Pompe disease is an inherited disorder marked by a deficiency of the lysosomal enzyme GAA. Though rare, it is debilitating since it reduces the function of muscles, including those required for breathing. Symptoms can appear at any stage of life. Patients experience progressive muscle weakness and difficulty in breathing.

Standard treatment is with Myozyme®

Myozyme is a registered trademark of Genzyme Corporation.

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