glycogen storage disease

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glycogen storage disease

[′glī·kə·jən ′stȯr·ij di‚zēz]
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It is also useful in screening for glycogen storage disease type III (debrancher enzyme deficiency) and MADA deficiency; however, some healthy individuals and some patients with metabolic myopathies may fail to show an increase in plasma ammonia to the maximal concentrations achievable, particularly when the exercise has been submaximal owing to poor effort during the test (5).
The mutations which occur in this gene have been associated with glycogen storage disease type III (GSD III, MIM#232400).
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III. J Hum Genet 2002; 47(2): 55-59.

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