Pompe's disease - RePub - Erasmus Universiteit Rotterdam

Contents
Chapter
1 Introduction 11
1.1 Lysosomal storage diseases 11
1.2 Cell biology of lysosomes 12
1.3 Therapy for lysosomal storage disorders 15
1.4 Pompe’s disease 16
1.5 Animal models 19
1.6 Therapy for Pompe’s disease 21
1.7 Scope 24
2 Cardiac Remodeling and Contractile Function in Acid
α-glucosidase Knock-out Mice
3 Long-term Intravenous Treatment of Pompe’s Disease With recombinant
Human Alpha Glucosidase From Milk
4 Morphologican Changes in Muscle Tissue of Patients with Infantile Pompe’s
Disease receiving Enzyme Replacement Therapy
5 Hearing loss in Infantile Pompe’s Disease and the Determination of
Underlying pathology in the Knockout mouse
6 Both Low and High Uptake forms of acid α-glucosidase Target to Muscle of
Mice with Pompe’s Disease
7 Discussion 107
7.1 The heart in Pompe’s disease 107
7.2 The muscle in Pompe’s disease 108
7.3 Hearing loss in Pompe’s disease 110
7.4 Concluding remarks about the mouse model of Pompe’s disease 111
7.5 Development of enzyme replacement therapy 111
7.6 Future prospects 114
Summary 117
Samenvatting 119
Curriculum vitae 121
List of abbreviations 123
Publications 124
In memoriam 125
Dankwoord 126
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