glycogen storage disease type II


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glycogen storage disease type II

A glycogen storage disease caused by a deficiency of lysosomal a-glucosidase.
Synonym: Pompe disease
References in periodicals archive ?
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).
Glycogen storage disease type II: Frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. Hum Mutat 2006;27:999-1006.
Carrier frequency for glycogen storage disease type II in New York and estimates of affected individuals born with the disease.
Towards a molecular therapy for glycogen storage disease type II (Pompe disease).
Human acid a-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. Hum Mol Genet 1999;8:2145-53.

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