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- W2047647562 abstract "Summary: The knowledge that the biochemical lesion associated with Tay-Sachs disease is demonstrable in many tissues, and in particular in cultured fibroblasts, suggested that ultrastructural lesions might also accompany hexosaminidase A deficiency in cultured fibroblasts. Electron microscopic studies on six human skin fibroblast lines and four amniotic fluid fibroblast lines, biochemically confirmed to be deficient in hexosaminidase A, showed characteristic cytoplasmic inclusions not observed in any normal lines studied. Up to 60 of these abnormal cytoplasmic inclusions were observed in full cell cross sections in all affected lines examined. Speculation: Electron microscopy of cultured fibroblasts deficient in hexosaminidase A may have value in the understanding of the cellular processes which led to Tay-Sachs disease. Ultrastructural examination may also prove to be of value in the prenatal diagnosis of the disease and possible enzyme replacement therapy." @default.
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- W2047647562 date "1978-04-01" @default.
- W2047647562 modified "2023-09-27" @default.
- W2047647562 title "Tay-Sachs Disease: Ultrastructural Studies on Cultured Fibroblasts" @default.
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- W2047647562 doi "https://doi.org/10.1203/00006450-197804000-00013" @default.
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