Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.

@article{Schulze2003ExpandedNS,
  title={Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.},
  author={Andreas Schulze and Martin Lindner and Dirk Kohlm{\"u}ller and Katharina Olgem{\"o}ller and Ertan Mayatepek and Georg F. Hoffmann},
  journal={Pediatrics},
  year={2003},
  volume={111 6 Pt 1},
  pages={
          1399-406
        }
}
OBJECTIVE The aims of this study were to determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn errors of metabolism in Germany and to assess the outcome for the patients that were diagnosed. METHODS During the period of study, 250,000 neonates in a German population were investigated for 23 inborn errors of metabolism by electrospray ionization-MS/MS. The overall value of the screening program was estimated by 1… 

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