Primary hyperoxaluria type 1 : clinical, genetic and biochemical studies

Authors	C.S. van Woerden
Supervisors	F.A. Wijburg R.J.A. Wanders
Cosupervisors	J.W. Groothoff M. Duran
Award date	01-07-2008
ISBN	9789090232089
Number of pages	175
Organisations	Faculty of Medicine (AMC-UvA)
Document type	PhD thesis
Note	Research conducted at: Universiteit van Amsterdam
Language	English
Downloads	Thesis Cover Titlepage Abbreviations Contents Index of chapter 1 Chapter 1 General introduction Chapter 2 Postponing urine acidification for 24 h does not change the oxalate concentration Chapter 3 Primary hyperoxaluria type 1 in The Netherlands: prevalence and outcome Chapter 4 Clinical implications of mutation analysis in primary hyperoxaluria type 1 Chapter 5 Primary hyperoxaluria remains undiagnosed in patients with hyperoxaluria and recurrent urolithiasis Chapter 6 High incidence of hyperoxaluria in generalized peroxisomal disorders Chapter 7 Quantification of endogenous oxalate production in patients with primary hyperoxaluria type 1: a stable isotope method Chapter 8 Oxalate production in Agxt -/- mice hepatocytes during incubation with potential sources of glyoxylate metabolism suggests additional routes for glyoxylate detoxification Chapter 9 General discussion Chapter 10 Summary Chapter 11 Nederlandse samenvatting (Summary in Dutch) Appendix 1 Reports of Oxalosis Appendix 2 Reference values for diagnostic studies Dankwoord Stellingen Curriculum Vitae
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