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GSD IIGlycogen Storage Disease Type II (Pompe Disease)
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Application of enzyme assay and gene analysis in the prenatal diagnosis for a family with glycogen storage disease type II (in Chinese).
Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. Biochem Biophys Res Commun.
Donnarumma et al., "Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II," Human Mutation, vol.
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper.
Pompe disease (glycogen storage disease type II) is one of >40 genetic diseases referred to as lysosomal storage disorders.
Pompe disease, or glycogen storage disease type II, is an autosomal recessive disorder of glycogen metabolism that is characterized by a deficiency of lysosomal acid [alpha]-glucosidase.
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