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- W570488178 abstract "Tay-Sachs disease, an invariably fatal cerebral storage (GM2-ganglioside) disorder inherited as an autosomal recessive trait, is presently the only such genetic disease which possesses all three criteria necessary to prevent the birth of homozygotes. These criteria are:- (a) The characterization of a well-defined, high risk group in the general population which carries the defective gene, e.g., Ashkenazi Jews in the United States (1). (b) A simple, quantitative biochemical test, preferably based upon the analysis of the deficient enzyme, which will permit the detection of the heterozygotes in the normal population and the isolation of the high-risk carrier-couples, e.g., the assay of hexosaminidase A in serum (2) or white blood cells (3,4) with fluorimetric procedures. (c) The prenatal diagnosis of the disease by enzymatic analysis of the amniotic fluid or cells obtained from the fetuses of carrier-couples sufficiently early to give the parents the choice of safely terminating the pregnancy(5).KeywordsAmniotic FluidHeat DenaturationMetachromatic LeukodystrophyBiochemical ScreeningCarrier GroupThese keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves." @default.
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- W570488178 date "1972-01-01" @default.
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- W570488178 title "Pre- and Postnatal Detection of Tay-Sachs Disease. A Comparative Study of Biochemical Screening Methods" @default.
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- W570488178 doi "https://doi.org/10.1007/978-1-4757-6570-0_41" @default.
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