Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency.

@article{Fingerhut2009StabilityOA,
  title={Stability of acylcarnitines and free carnitine in dried blood samples: implications for retrospective diagnosis of inborn errors of metabolism and neonatal screening for carnitine transporter deficiency.},
  author={Ralph Fingerhut and Regina E Ensenauer and Wulf R{\"o}schinger and Ralf Arnecke and B. Olgem{\"o}ller and A. A. Roscher},
  journal={Analytical chemistry},
  year={2009},
  volume={81 9},
  pages={3571-5}
}
OBJECTIVE Electrospray ionization-tandem mass spectrometry (ESI-MS/MS) is increasingly used in newborn screening programs. Acylcarnitine profiles from dried blood spots (DBS) are used to detect fatty acid oxidation disorders, carnitine cycle disorders, and organic acidurias. Stored dried blood is also a valuable source for postmortem investigations to unravel the cause of unexplained death in early childhood. However, diagnostic uncertainties arising from the unknown stability of acylcarnitines… CONTINUE READING

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