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International Journal of Neonatal Screening
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International Journal of Neonatal Screening, Volume 2, Issue 2

2016 June - 1 articles

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A Rapid and Sensitive UPLC-MS/MS-Method for the Separation and Quantification of Branched-Chain Amino Acids from Dried Blood Samples of Patients with Maple Syrup Urine Disease (MSUD)

  • Ralph Fingerhut,
  • Wulf Röschinger and
  • Markus Heck
Int. J. Neonatal Screen.2016, 2(2), 2;https://doi.org/10.3390/ijns2020002

2 June 2016

Newborn screening for MSUD is a special challenge since patients with MSUD can metabolically decompensate rapidly without adequate treatment within the first two weeks of life. However, the screening method does not detect the actual marker metabolit...

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Int. J. Neonatal Screen. - ISSN 2409-515X
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