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Glycogen Storage Disease Prevention

Research conducted at University of Paris has updated our knowledge about glycogen storage disease prevention

Published in Gene Therapy Weekly, February 4th, 2010

A report, 'Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease,' is newly published data in Human Molecular Genetics. "Glycogen storage disease type II (GSDII) or Pompe disease is an autosomal recessive disorder caused by acid alpha-glucosidase (GAA) deficiency, leading to lysosomal glycogen accumulation. Affected individuals store glycogen mainly in cardiac and skeletal muscle tissues resulting in fatal hypertrophic cardiomyopathy and respiratory failure in the most severe infantile form," scientists in Paris, France report.

"Enzyme replacement therapy has already proved some efficacy, but results...

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