ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01805586
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