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pubmed-article:2688540pubmed:abstractTextThe 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.lld:pubmed
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pubmed-article:2688540pubmed:authorpubmed-author:SwallowD MDMlld:pubmed
pubmed-article:2688540pubmed:authorpubmed-author:ReuserA JAJlld:pubmed
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pubmed-article:2688540pubmed:pagination185-92lld:pubmed
pubmed-article:2688540pubmed:dateRevised2006-11-15lld:pubmed
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pubmed-article:2688540pubmed:year1989lld:pubmed
pubmed-article:2688540pubmed:articleTitleAn investigation of the possible influence of neutral alpha-glucosidases on the clinical heterogeneity of glycogenosis type II.lld:pubmed
pubmed-article:2688540pubmed:affiliationDepartment of Cell Biology and Genetics, Erasmus University Rotterdam, The Netherlands.lld:pubmed
pubmed-article:2688540pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:2688540pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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