Article

Glycogen Stored in Skeletal but Not in Cardiac Muscle in Acid α-Glucosidase Mutant (Pompe) Mice Is Highly Resistant to Transgene-Encoded Human Enzyme

2002-10-28

Abstract excerpt

Although many lysosomal disorders are corrected by a small amount of the missing enzyme, it has been generally accepted that 20–30% of normal acid α-glucosidase (GAA) activity, provided by gene or enzyme replacement therapy, would be required to reverse the myopathy and cardiomyopathy in Pompe disease. We have addressed the issue of reversibility of the disease in the Gaa –/– mouse model. We have made transgenic l...

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Literature Corpus work: d57dc9b6-eeb2-5a7f-824c-0ed41b34dd20
DOI: 10.1016/s1525-0016(02)90716-1

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