Detection of biomarkers for lysosomal storage disorders using novel technologies

Thesis

Cover

Titlepage

Table of contents

Chapter 1 Introduction

Chapter 2 Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases

Chapter 3 Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention

Chapter 4 Limitations in quantitation of the biomarker CCL18 in Gaucher disease blood samples by surface-enhanced laser desorption/ionization time-of-flight mass spectrometry

Chapter 5 Increased plasma macrophage inflammatory protein (MIP)-1α and MIP-1β levels in type I Gaucher disease

Chapter 6 Correction in plasma macrophage inflammatory protein (MIP)-1β is dose dependent during the initial phase of enzyme replacement therapy of type I Gaucher disease

Chapter 7 Siblings with Gaucher disease type III: differential outcome due to timing of enzyme replacement and substrate reduction therapy

Chapter 8 Potential artefacts in proteome analysis of plasma of Gaucher patients due to protease abnormalities

Chapter 9 Assessing the statistical validity of proteomics based biomarkers

Chapter 10 Detection of mutant protein in complex biological samples: glucocerebrosidase mutations in Gaucher disease

Chapter 11 The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels

Chapter 12 Limited value of serum protein profiling for discrimination of patients suffering from Fabry disease

Chapter 13 Biomarkers for lysosomal storage diseases: identification and application as exemplified by chitotriosidase in Gaucher disease

Addendum 1 Proteomic profiling of plasma and serum of elderly patients with postoperative delirium

Chapter 14 Summary and Discussion

Chapter 15 Samenvatting en Dankwoord