Molecular aspects of Refsum disease and the enzymatic degradation of phytol to phytanic acid

Authors	D.M. van den Brink
Supervisors	R.J.A. Wanders
Award date	25-05-2005
Number of pages	103
Organisations	Faculty of Medicine (AMC-UvA)
Document type	PhD thesis
Note	Research conducted at: GEMO
Language	English
Downloads	Thesis Cover Titlepage Table of contents Chapter 1 GENERAL INTRODUCTION Chapter 2 IDENTIFICATION OF PEX7 AS THE SECOND GENE INVOLVED IN REFSUM DISEASE Chapter 3 IDENTIFICATION OF FATTY ALDEHYDE DEHYDROGENASE IN THE BREAKDOWN OF PHYTOL TO PHYTANIC ACID Chapter 4 A NOVEL AND RELIABLE DIAGNOSTIC ASSAY FOR SJÖGREN-LARSSON SYNDROME ON THE BASIS OF A DEFICIENCY OF PHYTOL DEGRADATION Chapter 5 A NOVEL ASSAY FOR THE PRENATAL DIAGNOSIS OF SJÖGREN-LARSSON SYNDROME Chapter 6 CHARACTERIZATION OF THE FINAL STEP IN THE CONVERSION OF PHYTOL INTO PHYTANIC ACID SUMMARY & SAMENVATTING VOOR IEDEREEN DANKWOORD CURRICULUM VITAE Cover
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