An investigation of the possible influence of neutral α‐glucosidases on the clinical heterogeneity of glycogenosis type II
- 1 May 1989
- journal article
- Published by Wiley in Annals of Human Genetics
- Vol. 53 (2), 185-192
- https://doi.org/10.1111/j.1469-1809.1989.tb01783.x
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.Keywords
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