Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLC-MS/MS.

@article{Minkler2017CorrectingFP,
  title={Correcting false positive medium-chain acyl-CoA dehydrogenase deficiency results from newborn screening; synthesis, purification, and standardization of branched-chain C8 acylcarnitines for use in their selective and accurate absolute quantitation by UHPLC-MS/MS.},
  author={Paul E. Minkler and Maria S.K. Stoll and Stephen T. Ingalls and Charles L. Hoppel},
  journal={Molecular genetics and metabolism},
  year={2017},
  volume={120 4},
  pages={
          363-369
        }
}
While selectively quantifying acylcarnitines in thousands of patient samples using UHPLC-MS/MS, we have occasionally observed unidentified branched-chain C8 acylcarnitines. Such observations are not possible using tandem MS methods, which generate pseudo-quantitative acylcarnitine "profiles". Since these "profiles" select for mass alone, they cannot distinguish authentic signal from isobaric and isomeric interferences. For example, some of the samples containing branched-chain C8 acylcarnitines… CONTINUE READING
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References

Publications referenced by this paper.
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Hoppel, Current Trends in Mass Spectrometry, a supplement to LCGC

  • P. E. Minkler, M.S.K. Stoll, C.L.S.T. Ingalls
  • 2017
1 Excerpt

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