Pompe disease gene therapy.

@article{Byrne2011PompeDG,
  title={Pompe disease gene therapy.},
  author={Barry J. Byrne and Darin James Falk and Christina A. Pacak and Sushrusha Nayak and Roland W. Herzog and Melissa E. Elder and Shelley Wells Collins and Thomas J. Conlon and Nathalie Cl{\'e}ment and Brian D. Cleaver and Denise A. Cloutier and Stacy L. Porvasnik and Saleem Islam and Mai K ElMallah and Anatole D. Martin and Barbara K. Smith and David D Fuller and Lee Ann Lawson and Cathryn S. Mah},
  journal={Human molecular genetics},
  year={2011},
  volume={20 R1},
  pages={
          R61-8
        }
}
Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of disease exists from hypotonia and severe cardiac hypertrophy in the first few months of life due to severe mutations to a milder form with the onset of symptoms in adulthood. In either condition, the involvement of several systems leads to progressive weakness and disability… 

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TLDR
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TLDR
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TLDR
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TLDR
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Infantile Pompes disease in a female neonate with significant family history: A case report
TLDR
A six month old female infant who presented with hypotonia, developmental delay and hypertrophic cardiomyopathy was reported, which confirmed the diagnosis of Infantile Pompes disease, and this infant had recurrent respiratory infections, failure to thrive and succumbed to death, due to hypertrophic heart disease at one year of age.
Pompe Disease: A Rare Disease of Glycogen Storage
TLDR
It is a rare disease with common symptoms like cardiomegaly, congestive heart failure, enlargement of liver, impaired alertness and limb-girdle weakness, and enzyme replacement therapy by is very effective.
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