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  • Title: Ultrastructural studies of eight cases of fetal Tay-Sachs disease.
    Author: Adachi M, Schneck L, Volk BW.
    Journal: Lab Invest; 1974 Jan; 30(1):102-12. PubMed ID: 4360066.
    Abstract:
    7 fetuses of 27 high risk pregnancies showed absence of hexosaminidase A and were aborted. In all 7 cases, biochemical examination of fetal tissue confirmed the diagnosis. In the brains of the Tay-Sachs disease fetuses electronmicroscopy showed an increase in G-M2 ganglioside and absence of hexosaminidase A. By 12 weeks gestation abnormal cytoplasmic inclusions were present in the spinal cord. By 22 weeks, ganglion cells of the retina and spinal ganglia showed alteration of cellular organelles and abnormal lipid material in the cytoplasm. Attempts at enzyme replacement were unseccessful.
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