Folia Dermatológica Peruana.         Vol. 13 • Nº 1  • 2002


1. Sybert,V.P. Genetic Skin Disorders,1997. Oxford University Press, pp 535-538.

2. Sassa S. Hematologic aspects of the porphyrias. Int J Hematol. 2000 J;71(1):1-17.

3. Murphy,G.M. The cutaneous porphyrias: a review. The British Photodermatology Group. Br.J.Dermatol 1999; 140:573-81.

4. De Leo,V.A. et al. Erythropoietic porphyria.10 year experience. Am J Med 1976; 60: 8-22.

5. Went,L.N., and Klasen, E.C. Genetic aspects of erythropoietic porphyria. Ann. Hum. Genet. 1984; 48: 105-117.

6. Norris, P.G. Genetic heterogeneity in erythropoietic protoporphyria: a study of the enzymatic defect in nine affected families. J. Invest. Dermatol. 1990; 95(3): 260-263.

7. Schneider-Yin, X. et al. Haplotype analysis in determination of the heredity of erythropoetic protoporphyria among Swiss families. J Invest Dermatol. 2001; 117:1521-1525.

8. Wang X, et al. Haplotype analysis of families with erythropoietic protoporphyria and novel mutations of the ferrochelatase gene. J Invest Dermatol. 1999;113(1):87-92.

9. Sellers V.M. et al. "Examination of Ferrochelatase Mutations that cause Erythropoietic Protoporphyria". Blood 1998; 91(10):3980-3985.

10. Gouya et al.: "Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant with Low Expression Accounts for Clinical Manifestation". Blood, 1999;93: 2105-2110. 

11. Schneider-Yin et al. "Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria". Blood 2000; 96(4): 1545-1549.

12. Rufenacht, U.B. et al. New missense mutations in the human ferrochelatase gene in a family with erythropoietic porphyria: functional studies and correlation of genotype and phenotype. Clin. Chem. 2001; 47: 1112-1113.

13. Timonen K, et al. Vascular changes in erythropoietic protoporphyria: histopathologic and immunohistochemical study. J Am Acad Dermatol. 2000; 43(3):489-97.

14. Bickers, D.R. The dermatologic manifestations of human porphyria. Ann. N. Y. Acad. Sci. 1987; 514: 261-267.

15. Varma S. et al. "Delayed onset of cutaneous symptoms in erythropoietic protoporphyria". Br. J Dermatol. 2000; 143: 221-223.

16. Todd D. J. "Therapeutic options for erythropoietic protoporphyria". Br. J. Dermatol. 2000; 142: 826-827.

17. Mathews-Roth, M.M. Beta-carothene therapy for erythropoietic protoporphyria and other photosensitive diseases. Biochimie 1986; 68: 875-884. 

18. Horina JH, and Wolf P. Epoetin for severe anemia in hepatoerythropoietic porphyria. N Engl J Med. 2000; 342(17):1294-5.

19. Tsuchiyama T, et al. Improvement of hepatic protoporphyrin accumulation after antibiotic treatment. Dig Dis Sci. 2000; 45(12):2411-3. 

20. Gorchein A, Foster GR. Liver failure in protoporphyria: long-term treatment with oral charcoal. Hepatology. 1999 Mar;29(3):995-6.

21. Leone N, et a. Liver transplantation for erythropoietic protoporphyria: report of a case with medium-term follow-up. Dig Liver Dis. 2000; 32(9):799-802.

22. Jimenez-Saenz M, et al. Severe liver failure in erythropoietic protoporphyria. A report of a case treated by liver transplantation. Med Clin (Barc). 1999; 113(5):176-179.

23. Do, K.D. et al. Benefits of chronic plasmapheresis and intravenous heme-albumin in erythropoietic protoporphyria after orthotopic liver transplantation. Transplantation 2002; 73: 469-72. 

24. Geronimi F, et al. Gene therapy of a mouse model of protoporphyria with a self-inactivating erythroid-specific lentiviral vector without preselection. Mol Ther. 2001; 4(4):331-338.

25. Fontanellas A, et al. Successful therapeutic effect in a mouse model of erythropoietic protoporphyria by partial genetic correction and fluorescence-based selection of hematopoietic cells. Gene Ther. 2001; 8(8):618-26.

Ver Bibliografía