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- W2103304553 abstract "A preliminary report on the use of microtechniques for the detection of three lysosomal storage diseases (Tay-Sachs, GM1-gangliosidosis and Fabry disease) is presented. This micro-assay method uses from 100 to 300 cultured amniotic fluid cells or skin fibroblasts. A comparison between values for total activity and heat inactivated forms of hexosaminidase (in Tay-Sachs disease) is presented. The feasibility of the use of this microtechnique in prenatal diagnosis is discussed." @default.
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- W2103304553 date "2008-04-23" @default.
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- W2103304553 title "Use of microtechniques for the detection of lysosomal enzyme disorders: Tay-Sachs disease, Gm1-gangliosidosis and Fabry disease" @default.
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- W2103304553 doi "https://doi.org/10.1111/j.1399-0004.1978.tb02102.x" @default.
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