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. 1976 Apr;13(2):148–149. doi: 10.1136/jmg.13.2.148

Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.

A H Fensom, P F Benson, S Blunt, S P Brown, T M Coltart
PMCID: PMC1013375  PMID: 1064728

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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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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