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α-Glucosidase in Pompe's disease

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Isoelectric precipitation at pH 5.0 and the use of the inhibitors, turanose, maltose and citrate, enabled the diagnosis of Pompe's disease to be made in dextran-isolated leucocytes using 4-methylumbelliferyl-α-D-gluco-pyranoside as substrate. These techniques were unnecessary with lymphocytes as the deficiency of acid α-glucosidase could be shown directly.

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Authors and Affiliations

  1. Department of Pathology, Royal Hospital for Sick Children and University of Edinburgh, EH9 1LF, Edinburgh

    D. M. Broadhead & J. Butterworth

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  1. D. M. Broadhead
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  2. J. Butterworth
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Broadhead, D.M., Butterworth, J. α-Glucosidase in Pompe's disease. J Inherit Metab Dis 1, 153–154 (1978). https://doi.org/10.1007/BF01805584

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  • DOI: https://doi.org/10.1007/BF01805584

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