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

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...

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Publicat a:PLoS One
Autors principals: Pettazzoni, Magali, Froissart, Roseline, Pagan, Cécile, Vanier, Marie T., Ruet, Séverine, Latour, Philippe, Guffon, Nathalie, Fouilhoux, Alain, Germain, Dominique P., Levade, Thierry, Vianey-Saban, Christine, Piraud, Monique, Cheillan, David
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2017
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5531455/
https://ncbi.nlm.nih.gov/pubmed/28749998
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0181700
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