Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS
- Polo, Giulia
- Burlina, Alessandro P
- Kolamunnage, Thilini B
- Zampieri, Michele
- Dionisi Vici, Carlo
- Zaninotto, Martina
- Plebani, Mario
- Burlina, Alberto B.
- STRISCIUGLIO, PIETRO
DOIAbstract
Lysosphingolipids (LysoSLs) are derivatives of sphingolipids which have lost the amide-linked acyl chain. More recently, LysoSLs have been identified as storage compounds in several sphingolipidoses, including Gaucher, Fabry and Niemann-Pick diseases. To date, different methods have been developed to measure each individual lysosphingolipid in plasma. This report describes a rapid liquid chromatography coupled with tandem mass spectrometry (LC-MS/MS) assay for simultaneous quantification of several LysoSLs in plasma
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