PMID: 1064728Apr 1, 1976Paper

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

Journal of Medical Genetics
A H FensomT M Coltart


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.


Nov 16, 1974·British Medical Journal·A H FensomS Blunt
Dec 13, 1969·Lancet·H L Nadler, A M Messina
May 9, 1970·Lancet·G HugS Soukup
Dec 27, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·H GaljaardM F Niermeijer
Mar 1, 1966·Analytical Biochemistry·M Messer, A Dahlqvist

Related Concepts

Amniotic Fluid Index
Glycogen Storage Disease
Generalized Glycogen Storage Disease of Infants
Antenatal Screening Procedures

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