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  • Title: Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease). A case report.
    Author: Bonnici F, Shapiro R, Joffe HS, Petersen EM.
    Journal: S Afr Med J; 1980 Nov 22; 58(21):860-2. PubMed ID: 6777881.
    Abstract:
    An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of alpha-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.
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