Tandemová hmotnostní spektrometrie sfingolipidů: Aplikace pro metabolické studie a diagnostiku dědičných poruch sfingolipidového metabolismu

Abstrakt

Tandem mass spectrometry is efficient to establish metabolomic profiles of sphingolipids in various biological materials under normal and abnormal conditions. It contributes to better understanding of the biological significance of sphingolipid molecule.

Klíčová slova

• tandem mass spectrometry
• sphingolipids in tissues
• cells and urine
• sphingolipid profiling
• lysosomal storage disorders
• globotriaosylceramide
• GM1 ganglioside
• sulfatide
• glucosylceramide
• Fabry and Gaucher diseases
• prosaposin and saposin B deficiencies
• metachromatic leucodystrophy