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  • Title: Enzyme replacement therapy in Gaucher's and Fabry's disease.
    Author: Pentchev PG.
    Journal: Ann Clin Lab Sci; 1977; 7(3):251-3. PubMed ID: 404951.
    Abstract:
    Glucocerebrosidase and ceramidetrihexoside-alpha-galactosidase were obtained in a high degree of purity from human placental tissue. The enzymes were infused in Gaucher and Fabry patients, respectively. Following the administration of the proteins to supplement the genetically determined deficiencies, there resulted a specific reduction in the accumulated hlycolipids in the circulation and liver. These results indicate that enzyme replacement may provide hope for the clinical treatment of these disorders.
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