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MeSH Review

Porphyria, Acute Intermittent

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  1. Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria. Lindberg, R.L., Martini, R., Baumgartner, M., Erne, B., Borg, J., Zielasek, J., Ricker, K., Steck, A., Toyka, K.V., Meyer, U.A. J. Clin. Invest. (1999) [Pubmed]
  2. Hematin administration to an adult with lead intoxication. Lamon, J.M., Frykholm, B.C., Tschudy, D.P. Blood (1979) [Pubmed]
  3. Posttraumatic epilepsy and acute intermittent porphyria: effects of phenytoin, carbamazepine, and clonazepam. Larson, A.W., Wasserstrom, W.R., Felsher, B.F., Chih, J.C. Neurology (1978) [Pubmed]
  4. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: Evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Hift, R.J., Meissner, P.N. Medicine (Baltimore) (2005) [Pubmed]
  5. Fluoxetine treatment of depressive symptoms in acute intermittent porphyria. Vaz, F.J., Salcedo, M.S. The Journal of clinical psychiatry. (1991) [Pubmed]
  6. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Lindberg, R.L., Porcher, C., Grandchamp, B., Ledermann, B., Bürki, K., Brandner, S., Aguzzi, A., Meyer, U.A. Nat. Genet. (1996) [Pubmed]
  7. Lack of effect of pregnancy or hematin therapy on erythrocyte porphobilinogen deaminase activity in acute intermittent porphyria. Sassa, S., Kappas, A. N. Engl. J. Med. (1989) [Pubmed]
  8. Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone. Anderson, K.E., Spitz, I.M., Sassa, S., Bardin, C.W., Kappas, A. N. Engl. J. Med. (1984) [Pubmed]
  9. Lead poisoning due to hai ge fen. The porphyrin content of individual erythrocytes. Markowitz, S.B., Nunez, C.M., Klitzman, S., Munshi, A.A., Kim, W.S., Eisinger, J., Landrigan, P.J. JAMA (1994) [Pubmed]
  10. Cimetidine in the treatment of acute intermittent porphyria. Baccino, E., Lan Cheong Wah, L.S., Bressollette, L., Mottier, D. JAMA (1989) [Pubmed]
  11. Treatment of acute intermittent porphyria with large doses of propranolol. Douer, D., Weinberger, A., Pinkhas, J., Atsmon, A. JAMA (1978) [Pubmed]
  12. Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. Delfau, M.H., Picat, C., de Rooij, F.W., Hamer, K., Bogard, M., Wilson, J.H., Deybach, J.C., Nordmann, Y., Grandchamp, B. J. Clin. Invest. (1990) [Pubmed]
  13. Increased delta aminolevulinic acid and decreased pineal melatonin production. A common event in acute porphyria studies in the rat. Puy, H., Deybach, J.C., Bogdan, A., Callebert, J., Baumgartner, M., Voisin, P., Nordmann, Y., Touitou, Y. J. Clin. Invest. (1996) [Pubmed]
  14. Induction of a deficiency of steroid delta 4-5 alpha-reductase activity in liver by a porphyrinogenic drug. Kappas, A., Bradlow, H.L., Bickers, D.R., Alvares, A.P. J. Clin. Invest. (1977) [Pubmed]
  15. Acute intermittent porphyria: identification and expression of exonic mutations in the hydroxymethylbilane synthase gene. An initiation codon missense mutation in the housekeeping transcript causes "variant acute intermittent porphyria" with normal expression of the erythroid-specific enzyme. Chen, C.H., Astrin, K.H., Lee, G., Anderson, K.E., Desnick, R.J. J. Clin. Invest. (1994) [Pubmed]
  16. DNA polymorphism of human porphobilinogen deaminase gene in acute intermittent porphyria. Llewellyn, D.H., Elder, G.H., Kalsheker, N.A., Marsh, O.W., Harrison, P.R., Grandchamp, B., Picat, C., Nordmann, Y., Romeo, P.H., Goossens, M. Lancet (1987) [Pubmed]
  17. High prevalence of a point mutation in the porphobilinogen deaminase gene in Dutch patients with acute intermittent porphyria. Gu, X.F., de Rooij, F., Lee, J.S., Te Velde, K., Deybach, J.C., Nordmann, Y., Grandchamp, B. Hum. Genet. (1993) [Pubmed]
  18. Genetic heterogeneity of the porphobilinogen deaminase gene in Swedish families with acute intermittent porphyria. Lee, J.S., Lundin, G., Lannfelt, L., Forsell, L., Picat, C., Grandchamp, B., Anvret, M. Hum. Genet. (1991) [Pubmed]
  19. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria. Puy, H., Gross, U., Deybach, J.C., Robréau, A.M., Frank, M., Nordmann, Y., Doss, M. Hum. Genet. (1998) [Pubmed]
  20. Abnormalities in liver function and morphology and impaired aminopyrine metabolism in hereditary hepatic porphyrias. Ostrowski, J., Kostrzewska, E., Michalak, T., Zawirska, B., Medrzejewski, W., Gregor, A. Gastroenterology (1983) [Pubmed]
  21. Changes of myocardial functions in acute hepatic porphyrias. Role of heme arginate administration. Kordac, V., Kozáková, M., Martásek, P. Ann. Med. (1989) [Pubmed]
  22. Haem precursors and porphobilinogen deaminase in erythrocytes and lymphocytes of patients with acute intermittent porphyria. Gross, U., Jacob, K., Frank, M., Doss, M.O. Cell. Mol. Biol. (Noisy-le-grand) (1997) [Pubmed]
  23. Porphyrin synthesis and mitochondrial respiration in acute intermittent porphyria: studies using cultured human fibroblasts. Bonkowsky, H.L., Tschudy, D.P., Weinbach, E.C., Ebert, P.S., Doherty, J.M. J. Lab. Clin. Med. (1975) [Pubmed]
  24. Use of sufentanil and atracurium anesthesia in a patient with acute porphyria undergoing coronary artery bypass surgery. Sneyd, J.R., Kreimer-Birnbaum, M., Lust, M.R., Heflin, J. J. Cardiothorac. Vasc. Anesth. (1995) [Pubmed]
  25. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations. Whatley, S.D., Woolf, J.R., Elder, G.H. Hum. Genet. (1999) [Pubmed]
  26. Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacement. Johansson, A., Möller, C., Fogh, J., Harper, P. Mol. Med. (2003) [Pubmed]
  27. Carbamazepine-induced non-hereditary acute porphyria. Yeung Laiwah, A.A., Rapeport, W.G., Thompson, G.G., Macphee, G.J., Philip, M.F., Moore, M.R., Brodie, M.J., Goldberg, A. Lancet (1983) [Pubmed]
  28. Systemic lupus erythematosus and acute intermittent porphyria: coincidence or association ? Rosemarin, J.I., Nigro, E.J., Levere, R.D., Mascarenhas, B.R. Arthritis Rheum. (1982) [Pubmed]
  29. Lack of certainty on the diagnosis of acute intermittent porphyria: comment on the concise communication by Cohen et al. Herrick, A.L., McColl, K.E. Arthritis Rheum. (1998) [Pubmed]
  30. The interaction of the factor VIII/von Willebrand factor complex with hematin. Green, D., Furby, F.H., Berndt, M.C. Thromb. Haemost. (1986) [Pubmed]
  31. Acute intermittent porphyria caused by a single base insertion of C in exon 15 of the porphobilinogen deaminase gene that results in a frame shift and premature stopping of translation. Daimon, M., Yamatani, K., Igarashi, M., Fukase, N., Morita, Y., Ogawa, A., Tominaga, M., Sasaki, H. Hum. Genet. (1994) [Pubmed]
  32. Use of regional anaesthesia in a patient with acute porphyria. McNeill, M.J., Bennet, A. British journal of anaesthesia. (1990) [Pubmed]
  33. Hyperinsulinemia in acute intermittent porphyria. Sixel-Dietrich, F., Verspohl, F., Doss, M. Horm. Metab. Res. (1985) [Pubmed]
  34. Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12. Ong, P.M., Lanyon, W.G., Moore, M.R., Connor, J.M. Mol. Cell. Probes (1998) [Pubmed]
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