Fabry's disease: antenatal detection.


A procedure is described for the intrauterine detection, at the 17th week of gestation, of a male fetus afflicted with Fabry's disease. The validity of this determination was substantiated by multiple enzyme and lipid analyses of tissue specimens obtained from the afflicted fetus. Fabry's disease may now be included with other X-linked metabolic deficiency… (More)


Cite this paper

@article{Brady1971FabrysDA, title={Fabry's disease: antenatal detection.}, author={Roscoe O. Brady and B William Uhlendorf and Cecil B Jacobson}, journal={Science}, year={1971}, volume={172 3979}, pages={174-5} }