Galactosemia screening with low false-positive recall rate: the Swedish experience.

  title={Galactosemia screening with low false-positive recall rate: the Swedish experience.},
  author={Annika Ohlsson and Claes Guthenberg and Ulrika von D{\"o}beln},
  journal={JIMD reports},
Newborn screening was implemented in the 1960s with screening for phenylketonuria (PKU). In the same decade, it became possible to screen for classical galactosemia, a rare autosomal recessive inherited disorder, which is potentially life threatening if not treated. While newborn screening for PKU has become almost universal, galactosemia is included only in a minority of European newborn screening programs. The major arguments why galactosemia is excluded from newborn screening programs are… CONTINUE READING
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Galaktosurie nach Milchzuckergabe bei angeborenem, familiaerem chronishen Leberleiden Klin Wschr

  • F Goppert
  • 1917
Highly Influential
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