A PROCEDURE FOR DETECTING CARRIERS OF GALACTOSEMIA
- 1 March 1959
- journal article
- research article
- Published by Proceedings of the National Academy of Sciences in Proceedings of the National Academy of Sciences
- Vol. 45 (3) , 328-331
- https://doi.org/10.1073/pnas.45.3.328
Abstract
Existing procedures have been modified to determine galactose- 1-phosphate uridyl transferase quantitatively in human erythrocytes. The method has been applied to galactosemics, their families, and appropriate normal individuals. Results for 3 typical families are reported. As parents have a transferase level which is intermediate between the normal and the galactosemic, carriers of this genetic disorder may be detected by determination of transferase in the red cells.This publication has 9 references indexed in Scilit:
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