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UvA-DARE is a service provided by the library of the University of Amsterdam (https://dare.uva.nl)

UvA-DARE (Digital Academic Repository)

Detection of biomarkers for lysosomal storage disorders using novel

technologies

van Breemen, M.J.

Publication date

2008

Link to publication

Citation for published version (APA):

van Breemen, M. J. (2008). Detection of biomarkers for lysosomal storage disorders using

novel technologies.

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Table of contents

Prologue

Chapter 1 Introduction

Section I: Biomarkers for Gaucher disease

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

Acta Paediatrica 94 (Suppl. 447) (2005) 43-46

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

Blood 103 (2004) 33-39

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 Biochimica et Biophysica Acta 1764 (2006) 1626-1632

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

Biochimica et Biophysica Acta 1772 (2007) 788-796

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

To be submitted as manuscript in shortened form

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

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

To be submitted with minor modifications

Chapter 9 Assessing the statistical validity of proteomics based biomarkers Analytica Chimica Acta 592 (2007) 210-217

11

35

43

59

71

89

99

111

127

versie 17-04.qxp 17-4-2008 10:47 Pagina 7

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

Analytical Biochemistry 372 (2008) 52-61

Section II: Biomarkers for Fabry disease

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

Journal of Inherited Metabolic Disease 30 (2007) 68-78

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

Submitted

Epilogue

Chapter 13 Biomarkers for lysosomal storage diseases: identification and application as exemplified by chitotriosidase in Gaucher disease Acta Paediatrica 97 (Suppl. 457) (2008) 7-14

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

Submitted

Chapter 14 Summary and Discussion

Chapter 15 Samenvatting en Dankwoord

143

161

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237

versie 17-04.qxp 17-4-2008 10:47 Pagina 8

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