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- W2531355825 startingPage "177" @default.
- W2531355825 abstract "In recent years, mass spectrometry (MS) has become the dominant technology in lipidomic analysis. It is widely used in diagnosis and research of lipid metabolism disorders including those characterized by impairment of lysosomal functions and storage of nondegraded-degraded substrates. These rare diseases, which include sphingolipidoses, have severe and often fatal clinical consequences. Modern MS methods have contributed significantly to achieve a definitive diagnosis, which is essential in clinical practice to begin properly targeted patient care. Here we summarize MS and tandem MS methods used for qualitative and quantitative analysis of sphingolipids (SL) relative to the diagnostic process for sphingolipidoses and studies focusing on alterations in cell functions due to these disorders. This review covers the following topics: Tandem MS is sensitive and robust in determining the composition of sphingolipid classes in various biological materials. Its ability to establish SL metabolomic profiles using MS bench-top analyzers, significantly benefits the first stages of a diagnosis as well as metabolic studies of these disorders. It can thus contribute to a better understanding of the biological significance of SL." @default.
- W2531355825 created "2016-10-21" @default.
- W2531355825 creator A5014124659 @default.
- W2531355825 creator A5023075513 @default.
- W2531355825 creator A5025481025 @default.
- W2531355825 creator A5035424393 @default.
- W2531355825 date "2016-01-01" @default.
- W2531355825 modified "2023-09-23" @default.
- W2531355825 title "Tandem Mass Spectrometry of Sphingolipids" @default.
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