Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism.

@article{Dnes2012MetabonomicsON,
  title={Metabonomics of newborn screening dried blood spot samples: a novel approach in the screening and diagnostics of inborn errors of metabolism.},
  author={J{\'u}lia D{\'e}nes and Eszter Szab{\'o} and Steven L. Robinette and Ildik{\'o} Szatm{\'a}ri and L{\'a}szl{\'o} Szőnyi and Joachim Gerhard Kreuder and Ernst W. Rauterberg and Zoltan Takats},
  journal={Analytical chemistry},
  year={2012},
  volume={84 22},
  pages={10113-20}
}
A novel, single stage high resolution mass spectrometry-based method is presented for the population level screening of inborn errors of metabolism. The approach proposed here extends traditional electrospray tandem mass spectrometry screening by introducing nanospray ionization and high resolution mass spectrometry, allowing the selective detection of more than 400 individual metabolic constituents of blood including acylcarnitines, amino acids, organic acids, fatty acids, carbohydrates, bile… CONTINUE READING
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