Abstract
Deficiency of acid 1,4-α-glucosidase (EC 3.2.1.20) is associated with Pompe's disease (McKusick 23230), generalized glycogen storage disease type II. The deficiency of this enzyme has been demonstrated in various human tissues and cultivated cells from patients with Pompe's disease. Prenatal and postnatal diagnosis of this genetic disorder can be established by a simple procedure measuring the enzyme activity even with artificial substrates. However, there remain some questions concerning enzyme characteristics of α-glucosidase in various human tissues and the changes occurring during development.
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References
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Shin-Bühring, Y.S., Unterreithmeier, J., Wilsmann, T. et al. The characteristics of acid 1,4-α-glucosidase in various human adult and fetal tissues. J Inherit Metab Dis 1, 159–160 (1978). https://doi.org/10.1007/BF01805586
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DOI: https://doi.org/10.1007/BF01805586