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. 1989 May;53(2):185-92.
doi: 10.1111/j.1469-1809.1989.tb01783.x.

An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II

A T Van der Ploeg  1 , M A Kroos, D M Swallow, A J Reuser
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An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II

A T Van der Ploeg et al. Ann Hum Genet. 1989 May.

Abstract

The lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal alpha-glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral alpha-glucosidases. We have therefore analysed the activity of the major neutral alpha-glucosidases in cultured fibroblasts or muscle cells from 26 patients with glycogenosis type II. The results indicate that there is no correlation between the expression of neutral alpha-glucosidase isoenzymes and the clinical phenotype of this disease.

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