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Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.
  1. A H Fensom,
  2. P F Benson,
  3. S Blunt,
  4. S P Brown,
  5. T M Coltart

    Abstract

    Using a simple fluorometric assay for alpha-glucosidase activity of cultured amniotic cells, we have monitored two pregnancies from families at risk for Pompe's disease. The fetus was judged to be affected in one, the pregnancy being terminated and unaffected in the other. The accuracy of these predictions was confirmed. These results suggest that this assay allows accurate prenatal diagnosis of Pompe's disease, three weeks after diagnostic amniocentesis.

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