Glycosphingolipidoses Enzymes and their lipids
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| Award date | 29-06-2017 |
| Number of pages | 290 |
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| Document type | PhD thesis |
| Note | Author's name on the cover: Maria João Ferraz. |
| Language | English |
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Thesis (complete)
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Chapter 1: Gaucher disease and Fabry disease: New markers and insights in pathophysiology for two distinct glycosphingolipidoses
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Chapter 2: Potent and selective activity-based probes for GH27 human retaining α-galactosidases
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Chapter 3: Synthesis of a panel of carbon-13-labelled (glyco)sphingolipids
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Chapter 4: Quantification of globotriaosylsphingosine in plasma and urine of Fabry patients by stable isotope ultraperformance liquid chromatography–tandem mass spectrometry
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Chapter 5: Lyso-glycosphingolipid abnormalities in different murine models of lysosomal storage disorders
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Chapter 6: Accurate quantification of sphingosine-1-phosphate in normal and Fabry disease plasma, cells and tissues by LC-MS/MS with 13C-encoded natural S1P as internal standard
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Chapter 7: Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
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Chapter 8: Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard
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Chapter 10: Simultaneous quantification of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards
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Chapter 12: Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingolipid bases during deficiency of glycosidases
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Chapter 13: Development of an acid ceramidase activity-based probe
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