Pompe Disease: From Basic Science to Therapy

  title={Pompe Disease: From Basic Science to Therapy},
  author={Lara J Kohler and Rosa Puertollano and Nina Raben},
Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. While an optimist might be excited about the advances made during this time, a pessimist would note that we have yet to find a cure. However, both sides would agree that many findings in basic science—such as the Nobel prize-winning discoveries of glycogen metabolism, the lysosome, and autophagy—have become the foundation of our understanding of Pompe disease. The disease is a… CONTINUE READING

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