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MeSH Review

Refsum Disease

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Disease relevance of Refsum Disease


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Biological context of Refsum Disease


Anatomical context of Refsum Disease


Gene context of Refsum Disease


Analytical, diagnostic and therapeutic context of Refsum Disease


  1. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. Brul, S., Westerveld, A., Strijland, A., Wanders, R.J., Schram, A.W., Heymans, H.S., Schutgens, R.B., van den Bosch, H., Tager, J.M. J. Clin. Invest. (1988) [Pubmed]
  2. Immunophilins, Refsum disease, and lupus nephritis: the peroxisomal enzyme phytanoyl-COA alpha-hydroxylase is a new FKBP-associated protein. Chambraud, B., Radanyi, C., Camonis, J.H., Rajkowski, K., Schumacher, M., Baulieu, E.E. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  3. Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. Wierzbicki, A.S., Lloyd, M.D., Schofield, C.J., Feher, M.D., Gibberd, F.B. J. Neurochem. (2002) [Pubmed]
  4. In vivo study of phytanic acid alpha-oxidation in classic Refsum's disease and chondrodysplasia punctata. ten Brink, H.J., Schor, D.S., Kok, R.M., Stellaard, F., Kneer, J., Poll-The, B.T., Saudubray, J.M., Jakobs, C. Pediatr. Res. (1992) [Pubmed]
  5. Accumulation and defective beta-oxidation of very long chain fatty acids in Zellweger's syndrome, adrenoleukodystrophy and Refsum's disease variants. Poulos, A., Singh, H., Paton, B., Sharp, P., Derwas, N. Clin. Genet. (1986) [Pubmed]
  6. Identification of PAHX, a Refsum disease gene. Mihalik, S.J., Morrell, J.C., Kim, D., Sacksteder, K.A., Watkins, P.A., Gould, S.J. Nat. Genet. (1997) [Pubmed]
  7. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Jansen, G.A., Ofman, R., Ferdinandusse, S., Ijlst, L., Muijsers, A.O., Skjeldal, O.H., Stokke, O., Jakobs, C., Besley, G.T., Wraith, J.E., Wanders, R.J. Nat. Genet. (1997) [Pubmed]
  8. Metabolism of phytanic acid in Refsum's disease. Billimoria, J.D., Clemens, M.E., Gibberd, F.B., Whitelaw, M.N. Lancet (1982) [Pubmed]
  9. Identification of PEX7 as the second gene involved in Refsum disease. van den Brink, D.M., Brites, P., Haasjes, J., Wierzbicki, A.S., Mitchell, J., Lambert-Hamill, M., de Belleroche, J., Jansen, G.A., Waterham, H.R., Wanders, R.J. Am. J. Hum. Genet. (2003) [Pubmed]
  10. Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease. Jansen, G.A., Hogenhout, E.M., Ferdinandusse, S., Waterham, H.R., Ofman, R., Jakobs, C., Skjeldal, O.H., Wanders, R.J. Hum. Mol. Genet. (2000) [Pubmed]
  11. Structure-function analysis of phytanoyl-CoA 2-hydroxylase mutations causing Refsum's disease. Mukherji, M., Chien, W., Kershaw, N.J., Clifton, I.J., Schofield, C.J., Wierzbicki, A.S., Lloyd, M.D. Hum. Mol. Genet. (2001) [Pubmed]
  12. 2,6-Dimethyloctanedioic acid--a metabolite of phytanic acid in Refsum's disease. Greter, J., Lindstedt, S., Steen, G. Clin. Chem. (1983) [Pubmed]
  13. Infantile Refsum's disease (phytanic acid storage disease): a variant of Zellweger's syndrome? Poulos, A., Sharp, P., Whiting, M. Clin. Genet. (1984) [Pubmed]
  14. Identification of the pathway of alpha-oxidation of cerebronic acid in peroxisomes. Sandhir, R., Khan, M., Singh, I. Lipids (2000) [Pubmed]
  15. Identification of genetic heterogeneity in Refsum's disease. Wierzbicki, A.S., Mitchell, J., Lambert-Hammill, M., Hancock, M., Greenwood, J., Sidey, M.C., de Belleroche, J., Gibberd, F.B. Eur. J. Hum. Genet. (2000) [Pubmed]
  16. Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis--a complementation study involving cell lines from 19 patients. Roscher, A.A., Hoefler, S., Hoefler, G., Paschke, E., Paltauf, F., Moser, A., Moser, H. Pediatr. Res. (1989) [Pubmed]
  17. Tissue distribution of phytanic acid and its analogues in a kinship with Refsum's disease. Yao, J.K., Dyck, P.J. Lipids (1987) [Pubmed]
  18. Omega-hydroxylation of phytanic acid in rat liver microsomes: implications for Refsum disease. Komen, J.C., Duran, M., Wanders, R.J. J. Lipid Res. (2004) [Pubmed]
  19. Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders. Poll-The, B.T., Skjeldal, O.H., Stokke, O., Poulos, A., Demaugre, F., Saudubray, J.M. Hum. Genet. (1989) [Pubmed]
  20. Identification of phytanoyl-CoA ligase as a distinct acyl-CoA ligase in peroxisomes from cultured human skin fibroblasts. Pahan, K., Cofer, J., Baliga, P., Singh, I. FEBS Lett. (1993) [Pubmed]
  21. Management of hereditary retinal degenerations: present status and future directions. Sharma, R.K., Ehinger, B. Survey of ophthalmology. (1999) [Pubmed]
  22. Characterization of mouse brain-specific angiogenesis inhibitor 1 (BAI1) and phytanoyl-CoA alpha-hydroxylase-associated protein 1, a novel BAI1-binding protein. Koh, J.T., Lee, Z.H., Ahn, K.Y., Kim, J.K., Bae, C.S., Kim, H.H., Kee, H.J., Kim, K.K. Brain Res. Mol. Brain Res. (2001) [Pubmed]
  23. Utilization of sterol carrier protein-2 by phytanoyl-CoA 2-hydroxylase in the peroxisomal alpha oxidation of phytanic acid. Mukherji, M., Kershaw, N.J., Schofield, C.J., Wierzbicki, A.S., Lloyd, M.D. Chem. Biol. (2002) [Pubmed]
  24. Cardiac Characteristics of Transgenic Mice Overexpressing Refsum Disease Gene-Associated Protein within the Heart. Koh, J.T., Choi, H.H., Ahn, K.Y., Kim, J.U., Kim, J.H., Chun, J.Y., Baik, Y.H., Kim, K.K. Biochem. Biophys. Res. Commun. (2001) [Pubmed]
  25. Atypical refsum disease with pipecolic acidemia and abnormal catalase distribution. Baumgartner, M.R., Jansen, G.A., Verhoeven, N.M., Mooyer, P.A., Jakobs, C., Roels, F., Espeel, M., Fourmaintraux, A., Bellet, H., Wanders, R.J., Saudubray, J.M. Ann. Neurol. (2000) [Pubmed]
  26. Identification of a brain specific protein that associates with a refsum disease gene product, phytanoyl-CoA alpha-hydroxylase. Lee, Z.H., Kim, H., Ahn, K.Y., Seo, K.H., Kim, J.K., Bae, C.S., Kim, K.K. Brain Res. Mol. Brain Res. (2000) [Pubmed]
  27. Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. Weinstein, R. Journal of clinical apheresis. (1999) [Pubmed]
  28. Plasma exchange for Refsum's disease. Gibberd, F.B. Transfusion science. (1993) [Pubmed]
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