References

Anstey, A. V., & Hift, R. J. (2007). Liver disease in erythropoietic protoporphyria: insights and implications for management. Postgrad Med J, 83(986), 739-748.

Balwani, M., Bloomer J., & Desnick, R.J. (2012). Erythropoietic Protoporphyria, Autosomal Recessive. In Paragon, R.A., et al (2012). GeneReviews, available online at http://www.ncbi.nlm.nih.gov/books/NBK100826/.

Balwani, M., & Desnick, R.J. (2012). The porphyrias: advances in diagnosis and treatment. Blood. 122(17), 3090.

Brun, A., & Sandberg, S. (1991). Mechanisms of photosensitivity in porphyric patients with special emphasis on erythropoietic protoporphyria. J Photochem Photobiol B, 10(4), 285-302.

Elder, G., Harper, P., Badminton, M., Sandberg, S., & Deybach, J. C. (2013). The incidence of inherited porphyrias in Europe. J Inherit Metab Dis, 36(5), 849-857.

Elder, G.H., Gouya, L., Whatley, S.D., Puy, H., Badminton, M.N. & Deybach, J.C. (2009). The molecular genetics of erythropoietic protoporphyria. Cell Mol Biol, 55(2): 112-126.

Gouya, L., Martin-Schmitt, C., Robreau, A-M., et al (2006). Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria. Am J Human Genetics, 78: 2-14.

Gouya, L., Puy, H., Lamoril, J., Da Silva, V., Grandchamp, B., Nordmann, Y., & Deybach, J-C, (1999). Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant with Low Expression Accounts for Clinical Manifestation. Blood, 93(6): 2105-2110.

Holme, S. A., Anstey, A. V., Badminton, M. N., & Elder, G. H. (2008). Serum 25-hydroxyvitamin D in erythropoietic protoporphyria. Br J Dermatol, 159(1), 211-213.

Holme, S. A., Anstey, A. V., Finlay, A. Y., Elder, G. H., & Badminton, M. N. (2006). Erythropoietic protoporphyria in the U.K.: clinical features and effect on quality of life. Br J Dermatol, 155(3), 574-581.

Jong, C. T., Finlay, A. Y., Pearse, A. D., Kerr, A. C., Ferguson, J., Benton, E. C., . . . Anstey, A. V. (2008). The quality of life of 790 patients with photodermatoses. Br J Dermatol, 159(1), 192-197.

Kushner, J. P., & Phillips, J. D. (2013, September 1, 2013). Erythropoietic Protoporphyria: Multiple Pathways to a Common Phenotype. The Hematologist. Retrieved September 2, 2013, from http://www.hematology.org/Thehematologist/Mini-Review/1037.aspx

Lecha, M., Puy, H., & Deybach, J. C. (2009). Erythropoietic protoporphyria. Orphanet J Rare Dis, 4, 19.

Lecluse, A. L. Y., Kuck-Koot, V. C. M., van Weelden, H., Sigurdsson, V., Russel, I. M., Frank, J., & Pasmans, S. G. M. A. (2008). Erythropoietic protoporphyria without skin symptoms-you do not always see what they feel. European Journal of Pediatrics, 167, 703-706.

Lim, H. W. (2005). Pathogenesis of Photosensitivity in the Cutaneous Porphyrias. Journal of Investigative Dermatology, 124(1), xvi-xvii.

Marko, P. B., Miljkovic, J., Gorenjak, M., Povalej, P., & Kansky, A. (2007). Erythropoietic protoporphyria patients in Slovenia. Acta Dermatovenerol Alp Pannonica Adriat, 16(3), 99-102, 104.

Mathews-Roth, M. M., & Rosner, B. (2002). Long-term treatment of erythropoietic protoporphyria with cysteine. Photodermatol Photoimmunol Photomed, 18(6), 307-309.

Michaels, B. D., Del Rosso, J. Q., Mobini, N., & Michaels, J. R. (2010). Erythropoietic protoporphyria: a case report and literature review. J Clin Aesthet Dermatol, 3(7), 44-48.

Minder, E. I., Schneider-Yin, X., & Minder, C. E. (2010). Patient-recorded outcome to assess therapeutic efficacy in protoporphyria-induced dermal phototoxicity: a proposal. Health Qual Life Outcomes, 8, 60.

Minder, E. I., Schneider-Yin, X., Steurer, J., & Bachmann, L. M. (2009). A systematic review of treatment options for dermal photosensitivity in erythropoietic protoporphyria. Cell Mol Biol (Noisy-le-grand), 55(1), 84-97.

Murphy, G. M. (2003). Diagnosis and management of the erythropoietic porphyrias. Dermatol Ther, 16(1), 57-64.

Puy, H., Gouya, L., & Deybach, J. C. (2010). Porphyrias. Lancet, 375(9718), 924-937.

Rufener, E. A. (1987). Erythropoietic protoporphyria: a study of its psychosocial aspects. Br J Dermatol, 116(5), 703-708.

Schneider-Yin, X., Gouya, L., Meier-Weinand, A., Deybach, J. C., & Minder, E. I. (2000). New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pediatr, 159(10), 719-725.

Sivaramakrishnan, M., Woods, J., & Dawe, R. (2014). Narrowband ultraviolet B phototherapy in erythropoietic protoporphyria: case series. Br J Dermatol, 170(4), 987-988.

Stafford, R., Farrar, M. D., Kift, R., Durkin, M. T., Berry, J. L., Webb, A. R., & Rhodes, L. E. (2010). The impact of photosensitivity disorders on aspects of lifestyle. Br J Dermatol, 163(4), 817-822.

Thunell, S., Harper, P., & Brun, A. (2000). Porphyrins, porphyrin metabolism and porphyrias. IV. Pathophysiology of erythyropoietic protoporphyria–diagnosis, care and monitoring of the patient. Scand J Clin Lab Invest, 60(7), 581-604.

Timonen, K. (2009). Cutaneous Porphyrias: Clinical and Histopathological Study. Forum for Nord Derm Ven, 14(2), 49-50.

Todd, D. J. (1994). Erythropoietic protoporphyria. Br J Dermatol, 131(6), 751-766.

Wahlin, S. (2010). Erythropoietic protoporphyria: clinical and epidemiological aspects. Karolinska Institutet, Stockholm.

Wahlin, S., Floderus, Y., Ros, A. M., Broome, U., & Harper, P. (2006). The difficult clinical diagnosis of erythropoietic protoporphyria. Physiol Res, 55 Suppl 2, S155-157.

Wahlin, S., Floderus, Y., Stal, P., & Harper, P. (2011). Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics. J Intern Med, 269(3), 278-288.

Wahlin, S., Marschall, H. U., & Fischler, B. (2013). Maternal and fetal outcome in Swedish women with erythropoietic protoporphyria. Br J Dermatol, 168(6), 1311-1315.

Whatley, S. D., Mason, N. G., Holme, S. A., Anstey, A. V., Elder, G. H., & Badminton, M. N. (2010). Molecular epidemiology of erythropoietic protoporphyria in the U.K. Br J Dermatol, 162(3), 642-646.

Whatley, S.D., Mason, N.G., Holme, S.A. et al (2007). Gene Dosage Analysis Identifies Large Deletions of the FECH Gene in 10% of Families with Erythropoietic Protoporphyria. J Inv Dermatol, 127: 2790-2794.

Whatley, S.D, Mason, N.G., Khan, M., et al (2004). Autosomal recessive erythropoietic protoporphyria in th United Kingdom: prevalence and relationship to liver disease. J Med Gen, 41(8): e105.

Last updated on May 27, 2016