News tagged with pompe disease
The same genetic defect causes Pompe disease in both humans and dogs
Pompe disease, a severe glycogen storage disease appearing in Lapphunds is caused by a genetic defect in acid α-glucosidase gene. The same genetic mutation also causes the equivalent disease in humans. Based ...
Genetics
Feb 15, 2013 |
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50-hour whole genome sequencing provides rapid diagnosis for children with genetic disorders
Today investigators at Children's Mercy Hospitals and Clinics in Kansas City reported the first use of whole genome information for diagnosing critically ill infants. As reported in Science Translational Medicine, the te ...
Genetics
Oct 03, 2012 |
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Targeted gene therapy enhances treatment for Pompe disease
Gene therapy to replace the protein missing in Pompe disease can be effective if the patient's immune system does not react against the therapy. Targeted delivery of the gene to the liver, instead of throughout the body,suppresses ...
Diseases, Conditions, Syndromes
Jun 25, 2012 |
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Cancer drugs help the hardest cases of Pompe disease
Kids with Pompe disease fail because of a missing enzyme, GAA, that leads to dangerous sugar build-up, which affects muscles and movement. An enzyme replacement treatment pioneered at Duke University has saved many lives, ...
Genetics
Jan 05, 2012 |
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