PT  - JOURNAL ARTICLE
AU  - Fensom, A H
AU  - Benson, P F
AU  - Blunt, S
AU  - Brown, S P
AU  - Coltart, T M
TI  - Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.
AID  - 10.1136/jmg.13.2.148
DP  - 1976 Apr 01
TA  - Journal of Medical Genetics
PG  - 148--149
VI  - 13
IP  - 2
4099  - http://jmg.bmj.com/content/13/2/148.short
4100  - http://jmg.bmj.com/content/13/2/148.full
SO  - J Med Genet1976 Apr 01; 13
AB  - 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.