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  • Title: An investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II.
    Author: Van der Ploeg AT, Kroos MA, Swallow DM, Reuser AJ.
    Journal: Ann Hum Genet; 1989 May; 53(2):185-92. PubMed ID: 2688540.
    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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