α‐Glucosidase in Pompe's disease
- 1 December 1978
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 1 (4) , 153-154
- https://doi.org/10.1007/bf01805584
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.Keywords
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