Pompe disease

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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.
A case report of enzyme replacement therapy for glycogen storage disease type II (in Chinese).
Clinical and Genetic Analysis of Seven Cases of Adult-Onset Glycogen Storage Disease Type II (in Chinese).
Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease
Morse et al., "Recombinant human acid [alpha]-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial," Genetics in Medicine, vol.
Clinical Analysis of Algerian Patients with Pompe Disease
Glycogen storage disease type II: acid [alpha]-glucosidase (acid maltase) deficiency.
Novel mutations in African American patients with glycogen storage disease type II. [Mutations in brief no.
Determination of oligosaccharides in pompe disease by electrospray ionization tandem mass spectrometry
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