fibroblasts

Antioxidants Help ERT Efficacy in Pompe, Early Study Suggests

Antioxidants can increase the effectiveness of enzyme replacement therapy (ERT) for Pompe disease caused by oxidative stress, the damage in cells or tissues by reactive oxygen molecules, according to a study in cells and mice. The findings also showed that enhancing autophagy — the destruction of damaged or redundant…

Skin Biopsy for Pompe Diagnosis: What to Expect?

A skin biopsy is one of the tests that doctors can use to help diagnose Pompe disease, a rare genetic disease characterized by the buildup of complex sugar molecules called glycogen in muscle and other tissues. This buildup may interfere with function and cause the symptoms…