Pompe's disease - RePub - Erasmus Universiteit Rotterdam

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Pompe’s disease The mouse as model in the development of enzyme therapy De ziekte van Pompe De ontwikkeling van enzymtherapie: de muis als model Proefschrift ter verkrijging van de graad van doctor aan de Erasmus Universiteit Rotterdam op gezag van de Rector Magnifi cus Prof. dr. S.W.J. Lamberts en volgens besluit van het College voor Promoties. De openbare verdediging zal plaatsvinden op woensdag 18 februari 2004 om 13.45 uur door Jozef Hubertus Johannes Kamphoven geboren te ‘s-Hertogenbosch
Promotiecommissie: Promotor: Prof. dr. B.A. Oostra Overige leden: Prof. dr. H.A. Buller Prof. dr. J.G.G. Borst Prof. dr. D.J.G.M. Duncker Co-promotoren: Dr. A.J.J. Reuser Dr. A.T. van der Ploeg
Page 2 and 3: Pompe’s disease The mouse as mode
Page 6: Contents Chapter 1 Introduction 11
Page 10: 1Introduction
Page 13 and 14: Chapter 1 In lysosomal storage diso
Page 15 and 16: Chapter 1 Network are associated wi
Page 17 and 18: Chapter 1 the indirect approach can
Page 19 and 20: Chapter 1 Diagnosis Clinical Diagno
Page 21 and 22: Chapter 1 Fig. 3. Targeting vectors
Page 23 and 24: Chapter 1 muscles in approximately
Page 25 and 26: Chapter 1 1.7 Scope The studies des
Page 27 and 28: Chapter 1 47. Rudolph, C., et al.,
Page 29 and 30: Chapter 1 112. Dorling, P.R., J.M.
Page 32: 2 Cardiac Remodeling and Contractil
Page 35 and 36: Chapter 2 Experimental groups The a
Page 37 and 38: Chapter 2 Macroscopy The wet weight
Page 39 and 40: Chapter 2 Pooling of all individual
Page 41 and 42: Chapter 2 Hemodynamics during isofl
Page 43 and 44: Chapter 2 Discussion The major fi n
Page 45 and 46: Chapter 2 References 1. Bharati S,
Page 48: 3 Long Term Intravenous Treatment o
Page 51 and 52: Chapter 3 gene, we have focused on
Page 53 and 54: Chapter 3 pattern of alpha-glucosid
Page 55 and 56:
Chapter 3 Alpha-glucosidase activit
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Chapter 3 and 4, respectively. The
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Chapter 3 For patient 1 the mental
Page 61 and 62:
Chapter 3 R.M. Koppenol, T. de Vrie
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4 Morphological Changes in Muscle T
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Chapter 4 Therapeutic regimen Pharm
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Chapter 4 Fig. 2. Pre treatment var
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Chapter 4 Fig. 4. Effect of ERT on
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Chapter 4 Table 2. Patients scores
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Chapter 4 enzyme. Moreover, when th
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5Hearing loss in Infantile Pompe’
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Chapter 5 Methods Patients Seven pa
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Chapter 5 revealed a hearing loss o
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Chapter 5 Fig. 3. Threshold levels
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Chapter 5 Discussion Hearing loss i
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6 Both Low and High Uptake Forms of
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Chapter 6 healthy volunteers, we st
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Chapter 6 was extracted from human
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Chapter 6 from bovine testes (bAGLU
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Chapter 6 Fig. 5. Immunocytochemica
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Chapter 6 glucuronidase, and is obv
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Chapter 6 van Deel MSc for technica
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7Discussion
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Chapter 7 Cardiac function The mous
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Chapter 7 After the fi rst three mo
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Chapter 7 in 2004. This is 40 years
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Chapter 7 the skeletal muscle. The
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Chapter 7 46. Baudhuin, P., H.G. He
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age are ventilator dependent and wh
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om de morfologie van de spieren te
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naar de ziekte van Pompe bij kinder
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Publications Cardiac remodeling and
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Dankwoord Of ‘Mice and men’ zou
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Dit proefschrift had er niet zo uit
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Pompe's disease - RePub - Erasmus Universiteit Rotterdam

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