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Development of a new tandem mass spectrometry method for urine and amniotic fluid screening of oligosaccharidoses.

Monique PiraudMagali PettazzoniLouise MenegautCatherine CaillaudYann NadjarChristine Vianey-SabanRoseline Froissart
Published in: Rapid communications in mass spectrometry : RCM (2018)
The method is quick and easy to run, with an LC analysis time of 13 min per sample. The quantitative validation could not be obtained in the absence of a specific standard and of a labelled internal standard for each compound. Even if this LC/MS/MS method is only qualitative, it is very specific and much more sensitive than TLC. It allows the urinary screening of oligosaccharidoses, even mild or late-onset forms, and the screening of antenatal forms in amniotic fluid. Copyright © 2017 John Wiley & Sons, Ltd.
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