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 ?
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene.
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease
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.
Determination of oligosaccharides in pompe disease by electrospray ionization tandem mass spectrometry
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