Search results

Query: faculty: "AMC-UvA" and publication year: "2000"

Author G.A. Jansen Title Phytanic acid oxidation and the enzymatic and molecular basis of Refsum's disease Promotor R.J.A. Wanders Co-promotor C. Jakobs Date 01-02-2000 Publisher s.n. Place s.l. Year 2000 Pages 155 Faculty AMC-UvA Classification - Language English Document type Dissertation Download papers Thesis   Cover Titlepage Contents Abbreviations Introduction Chapter 1 Phytanic acid -oxidation:a review Chapter 2 Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid -oxidation in humans Chapter 3 Phytanoyl-Coenzyme A Hydroxylase Deficiency-The Enzyme Defect in Refsum's Disease Chapter 4 Short Communication-SSIEM Award Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata Chapter 5 Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders Chapter 6 Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene Chapter 7 Short Communication Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA Chapter 8 Phytanoyl-CoA hydroxylase from rat liver: protein purification and cDNA cloning with implications for the subcellular localisation of phytanic acid -oxidation Chapter 9 Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease Chapter 10 Phytanic acid -oxidation: identification of 2-hydroxyphytanoyl-CoA lyase in rat liver and its localisation in peroxisomes Summary Samenvatting Dankwoord List of publications Cover Document finder Use this url to link to this page: http://dare.uva.nl/en/record/86359 Contact us about this recordNotify a colleague Add to bookbag

• Disclaimer/Complaints regulations
  The University Library of the Universiteit van Amsterdam has done its utmost to find the owners of the material and to ask their permission for publication on the internet. In some cases, however, we have been unsuccessful.
  If you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the University Library know, stating your reasons. In case of a legitimate complaint the University Libary will make the material inaccessible and/or remove it from the website.
  Please send an e-mail to: dare@uva.nl, or a letter to: Bibliotheek van de Universiteit van Amsterdam, Dept. Electronic Services, UvA-DARE, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible.

• A service provided by the Library of the Universiteit van Amsterdam