RT Journal Article
SR Electronic
T1 Amniotic cell 4-methylumbelliferyl-alpha-glucosidase activity for prenatal diagnosis of Pompe's disease.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 148
OP 149
DO 10.1136/jmg.13.2.148
VO 13
IS 2
A1 Fensom, A H
A1 Benson, P F
A1 Blunt, S
A1 Brown, S P
A1 Coltart, T M
YR 1976
UL http://jmg.bmj.com/content/13/2/148.abstract
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.