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MeSH Review

Porphyria, Variegate

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Disease relevance of Porphyria, Variegate


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Gene context of Porphyria, Variegate


  1. Chester porphyria: biochemical studies of a new form of acute porphyria. McColl, K.E., Thompson, G.G., Moore, M.R., Goldberg, A., Church, S.E., Qadiri, M.R., Youngs, G.R. Lancet (1985) [Pubmed]
  2. Hereditary hepatic porphyrias in Finland. Mustajoki, P., Koskelo, P. Acta medica Scandinavica. (1976) [Pubmed]
  3. An unusual case of variegate porphyria with possible homozygous inheritance. Coakley, J., Hawkins, R., Crinis, N., McManus, J., Blake, D., Nordmann, Y., Sloan, L., Connelly, J. Australian and New Zealand journal of medicine. (1990) [Pubmed]
  4. A R59W mutation in human protoporphyrinogen oxidase results in decreased enzyme activity and is prevalent in South Africans with variegate porphyria. Meissner, P.N., Dailey, T.A., Hift, R.J., Ziman, M., Corrigall, A.V., Roberts, A.G., Meissner, D.M., Kirsch, R.E., Dailey, H.A. Nat. Genet. (1996) [Pubmed]
  5. Allosteric inhibition of human lymphoblast and purified porphobilinogen deaminase by protoporphyrinogen and coproporphyrinogen. A possible mechanism for the acute attack of variegate porphyria. Meissner, P., Adams, P., Kirsch, R. J. Clin. Invest. (1993) [Pubmed]
  6. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. de Villiers, J.N., Hillermann, R., Loubser, L., Kotze, M.J. Hum. Mol. Genet. (1999) [Pubmed]
  7. Effects of heme arginate on cytochrome P450-mediated metabolism of drugs in patients with variegate porphyria and in healthy men. Mustajoki, P., Mustajoki, S., Rautio, A., Arvela, P., Pelkonen, O. Clin. Pharmacol. Ther. (1994) [Pubmed]
  8. Rapid normalization of antipyrine oxidation by heme in variegate porphyria. Mustajoki, P., Himberg, J.J., Tokola, O., Tenhunen, R. Clin. Pharmacol. Ther. (1992) [Pubmed]
  9. General anesthesia in "inducible" porphyrias. Mustajoki, P., Heinonen, J. Anesthesiology (1980) [Pubmed]
  10. Propofol as an i.v. anaesthetic induction agent in variegate porphyria. Meissner, P.N., Harrison, G.G., Hift, R.J. British journal of anaesthesia. (1991) [Pubmed]
  11. Porphyrinogenicity of etomidate and ketamine as continuous infusions. Screening in the DDC-primed rat model. Harrison, G.G., Moore, M.R., Meissner, P.N. British journal of anaesthesia. (1985) [Pubmed]
  12. Variegate porphyria with coexistent decrease in porphobilinogen deaminase activity. Weinlich, G., Doss, M.O., Sepp, N., Fritsch, P. Acta Derm. Venereol. (2001) [Pubmed]
  13. Identification of three mutations and associated haplotypes in the protoporphyrinogen oxidase gene in South African families with variegate porphyria. Warnich, L., Kotze, M.J., Groenewald, I.M., Groenewald, J.Z., van Brakel, M.G., van Heerden, C.J., de Villiers, J.N., van de Ven, W.J., Schoenmakers, E.F., Taketani, S., Retief, A.E. Hum. Mol. Genet. (1996) [Pubmed]
  14. Partial characterization and assignment of the gene for protoporphyrinogen oxidase and variegate porphyria to human chromosome 1q23. Roberts, A.G., Whatley, S.D., Daniels, J., Holmans, P., Fenton, I., Owen, M.J., Thompson, P., Long, C., Elder, G.H. Hum. Mol. Genet. (1995) [Pubmed]
  15. Lack of the R59W South African founder effect mutation in protoporphyrinogen oxidase in a British patient with homozygous variegate porphyria. McGrath, J.A., Hawk, J.L., Graham, R.M., Christiano, A.M. Br. J. Dermatol. (1997) [Pubmed]
  16. Homozygous variegate porphyria: a compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene. Palmer, R.A., Elder, G.H., Barrett, D.F., Keohane, S.G. Br. J. Dermatol. (2001) [Pubmed]
  17. The enzymatic defect in variegate prophyria. Studies with human cultured skin fibroblasts. Brenner, D.A., Bloomer, J.R. N. Engl. J. Med. (1980) [Pubmed]
  18. Homozygous variegate porphyria. A severe skin disease of infancy. Mustajoki, P., Tenhunen, R., Niemi, K.M., Nordmann, Y., Kääriäinen, H., Norio, R. Clin. Genet. (1987) [Pubmed]
  19. Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. Deybach, J.C., Puy, H., Robréau, A.M., Lamoril, J., Da Silva, V., Grandchamp, B., Nordmann, Y. Hum. Mol. Genet. (1996) [Pubmed]
  20. Homozygous variegate porphyria: 20 y follow-up and characterization of molecular defect. Kauppinen, R., Timonen, K., von und zu Fraunberg, M., Laitinen, E., Ahola, H., Tenhunen, R., Taketani, S., Mustajoki, P. J. Invest. Dermatol. (2001) [Pubmed]
  21. Expression and characterization of six mutations in the protoporphyrinogen oxidase gene among Finnish variegate porphyria patients. von und zu Fraunberg, M., Tenhunen, R., Kauppinen, R. Mol. Med. (2001) [Pubmed]
  22. Acute hepatic porphyria and hepatocellular carcinoma. Kauppinen, R., Mustajoki, P. Br. J. Cancer (1988) [Pubmed]
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