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  • Title: alpha-Glucosidase in Pompe's disease.
    Author: Broadhead DM, Butterworth J.
    Journal: J Inherit Metab Dis; 1978; 1(4):153-4. PubMed ID: 41974.
    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-alpha-D-glucopyranoside as substrate. These techniques were unnecessary with lymphocytes as the deficiency of acid alpha-glucosidase could be shown directly.
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