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  • Title: Adult forms of glycogenosis type II. A defect in an early stage of acid alpha-glucosidase realization.
    Author: Reuser AJ, Kroos M.
    Journal: FEBS Lett; 1982 Sep 20; 146(2):361-4. PubMed ID: 6754447.
    Abstract:
    The activity of acid alpha-glucosidase in cultured fibroblasts from adult patients with the lysosomal storage disease glycogenosis type II is only 10% of normal. A normal activity per molecule is found for the mature as well as for the precursor form of acid alpha-glucosidase in adult mutant fibroblasts. Excessive lysosomal breakdown of mature enzyme purified from mutant fibroblasts and taken up by acceptor cells does not occur. However, the NH4Cl-stimulated secretion of a precursor form of acid alpha-glucosidase by adult mutant fibroblasts is markedly reduced. The results are indicative of a defect during the production of acid alpha-glucosidase.
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