Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.

@article{Pyhtila2014NewbornSF,
  title={Newborn screening for galactosemia in the United States: looking back, looking around, and looking ahead.},
  author={Brook M. Pyhtila and Kelly A. Shaw and Samantha E. Neumann and Judith L Fridovich-Keil},
  journal={JIMD reports},
  year={2014},
  volume={15},
  pages={
          79-93
        }
}
It has been 50 years since the first newborn screening (NBS) test for galactosemia was conducted in Oregon, and almost 10 years since the last US state added galactosemia to their NBS panel. During that time an estimated >2,500 babies with classic galactosemia have been identified by NBS. Most of these infants were spared the trauma of acute disease by early diagnosis and intervention, and many are alive today because of NBS. Newborn screening for galactosemia is a success story, but not yet a… CONTINUE READING

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Duarte Variant Galactosemia Synonym :

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Classic Galactosemia: Indian Scenario.

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A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.

Thanh-Thanh Claire V Tran, Ying Liu, +5 authors Judith L. Fridovich-Keil
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Screening for galactosemia: is there a place for it?

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