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  • Title: Prenatal diagnosis of Tay-Sachs disease with heat-labile beta-hexosaminidase B.
    Author: Momoi T, Kikuchi K, Shigematsu Y, Sudo M, Tanioka K.
    Journal: Clin Chim Acta; 1983 Oct 14; 133(3):331-4. PubMed ID: 6226459.
    Abstract:
    Two consecutive pregnancies at risk for Tay-Sachs disease with heat-labile beta-hexosaminidase B were monitored. Differential isozyme detection of beta-hexosaminidase in cell free amniotic fluid by DEAE cellulose column chromatography and cellulose acetate paper electrophoresis showed an affected fetus in the first pregnancy and an unaffected in the second. These results were confirmed in the aborted fetus and in a newborn baby, respectively.
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