Newborn screening for galactosemia: ultramicro assay for galactose-1-phosphate-uridyltransferase activity.

@article{Rhode1998NewbornSF,
  title={Newborn screening for galactosemia: ultramicro assay for galactose-1-phosphate-uridyltransferase activity.},
  author={Heidrun Rhode and E Elei and I Taube and Teodor Podskarbi and A. L. Van Horn},
  journal={Clinica chimica acta; international journal of clinical chemistry},
  year={1998},
  volume={274 1},
  pages={
          71-87
        }
}
An enzymatically optimized, miniaturized (20 microl) fluorimetric assay of galactose-1-phosphate-uridyltransferase using dried blood spots for newborn screening is presented. The Beutler reaction principle has been adapted to the microtiter plate technology and acetone/methanol was used for complete deproteinization. A special ultramicro multiwell screening plate resistant to organic solvents has been developed and employed. The assay is simple, sensitive and inexpensive, due to small reagent… CONTINUE READING