LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

Pettazzoni, Magali; Froissart, Roseline; Pagan, Cécile; T. Vanier, Marie; Ruet, Séverine; Latour, Philippe; Guffon, Nathalie; Fouilhoux, Alain; P. Germain, Dominique; Levade, Thierry; Vianey‐Saban, Christine; Piraud, Monique; Cheillan, David

doi:10.1371/journal.pone.0181700

Public

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease

Published in PLoS ONE • Jul 27, 2017

Authors:

Magali Pettazzoni

Roseline Froissart

Cécile Pagan

Abstract

BACKGROUND: The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma. METHODOLOGY: We developed a sen...

Subject

Krabbe disease

Amniotic fluid

Gangliosidosis

Finding related papers...

Discussions

(0)

No comments yet

Be the first to share your thoughts!