Pompe disease

(redirected from Glycogen storage disease type II)
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Pompe disease

[′pämp di‚zēz]
(medicine)
A hereditary glycogen storage disease in humans arising from deficiency of a lysosomal enzyme and characterized by weakness, enlargement of the heart and cardiac failure, enlargement of the tongue, and moderate enlargement of the liver.
References in periodicals archive ?
Human acid a-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II.
Adenovirus-mediated transfer of the acid [alpha]-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation.
A diagnostic protocol for adult-onset glycogen storage disease type II.
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