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Referencias:

• Batlle AM del C. Porfirias Humanas. Signos y Tratamientos. En: Porfirias y Porfirinas. Aspectos clínicos, bioquímicos y biología molecular. Actualizaciones Médico Bioquímicas. Ediciones Federación Bioquímica de la Provincia de Buenos Aires. Acta Bioquím Latinoamer 1997; 37-82Anderson, K.E., Sassa, S., Bishop, D.F., Desnick, R.J., Disorders of heme biosynthesis. X-linked sideroblastic anemia and the porphyrias (2000) The Metabolic and Molecular Bases of Inherited Diseases, pp. 2961-3062. , Scriver CR, Beaudet AL, Sly WS, Valle D Editores, 8th Edición. New York: McGraw-Hill
• Elder, G.H., Hepatic Porphyrias in children (1997) J Inherit Metab Dis, 20, pp. 237-246
• Kauppinen, R., Porphyrias (2005) Lancet, 365, pp. 241-252
• Barclay, N., Acute intermittent porphyria in childhood: A negleted diagnosis? (1974) Arch Dis Child, 49, pp. 404-405
• Beauvais, P., Klein, M.L., Denave, L., Porphyria ague intermittente a l'age de quatre mois. (1976) Aped, 33, pp. 987-992
• Picat, C., Delfau, M., De Rooij, F.W., Beukeveld, G.J., Wolthers, B.G., Wadman, S.K., Nordmann, Y., Grandchamp, B., Identification of the mutation in the parents of a patient with a putative compound heterozygosity for acute intermittent porphyria (1990) J Inherit Metab Dis, 13, pp. 684-686
• Llewellyn, D.H., Smith, S.J., Elder, G.H., Hutchesson, A.C., Rattenbury, J.M., Smith, M.F., Homozygous acute intermittent porphyria: Compound heterozygosity for adjacent base transitions in the same codon of the porphobilinogenase gene (1992) Hum Genet, 89, pp. 97-98
• Xu, W., Solís, C., Bermejo, A.M., Desnick, R.J., Clinical and molecular delineation of severe homozygous dominant acute intermittent porphyria (1995) Pediatr Res, A155, p. 916
• Solis, C., Martínez-Bermejo, A., Naidich, T.P., Kaufmann, W.E., Astrin, K.H., Bishop, D.F., Desnick, R.J., Acute intermittent porphyria: Studies of the severe homozygous dominant disease provides insights into the neurologic attacks in acute porphyrias (2004) Arch Neurol, 61, pp. 1764-1770
• Hessels, J., Voortman, G., Van der Wagen, A., Van der Elzen, C., Scheffer, H., Zudderhoudt, J., Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursors (2004) J Inherit Metab Dis, 27, pp. 19-27
• Hift RJ, Meissner PN, Todd G, Kirby P, Bilsland D, Collins P, Ferguson y Moore MR. Homozygous variegate porphyria: an evolving clinical syndrome. Postgrad Med J 1993; 69: 781-786Frank, J., McGrath, J., Lam, H., Graham, R.M., Hawk, J.L.M., Christiano, A.M., Homozygous variegate porphyria: Identification of mutations on both alleles of the protoporphyrinogen oxidase gene in severely affected probands (1998) J Invest Dermatol, 110, pp. 452-455
• Roberts, A.G., Puy, H., Dailey, T.A., Molecular characterization of homozygous variegate porphyria (1998) Hum Mol Genet, 7, pp. 1921-1925
• Corrigall, A.V., Hift, R.J., Davids, L.M., Hancock, V., Meissner, D., Kirsch, R.E., Meissner, P.N., Homozygous Variegate Porphyria in South Africa: Genotypic Analysis in Two Cases (2000) Mol Genet Metab, 69, pp. 323-330
• Kauppinen, R., Timonen, K., von und zu Fraunberg, M., Laitinene, E., Ahola, H., Tenhunen, R., Taketani, S., Mustajoki, P., Homozygous variegate Porphyria: 20 y follow-up and characterization of molecular defect (2001) J Invest Dermatol, 116, pp. 610-613
• Palmer, R.A., Elder, G.H., Barrett, D.F., Keohane, S.G., Homozygous variegate Porphyria: A compound heterozygote with novel mutations in the protoporphyrinogen oxidase gene (2001) Br J Dermatol, 144, pp. 866-869
• Poblete-Gutiérrez, P., Wolff, C., Farías, R., Frank, J.A., Chilean boy with severe photosensitivity and finger shortening: The first case of homozygous variegate porphyria in South America (2006) Br J Dermatol, 154, pp. 368-371
• De Vernuil, H., Atiken, G., Nordmann, Y., Familial and sporadic porphyria cutanea tarda: Two different diseases (1978) Hum Genet, 44, pp. 135-151
• Elder, G.H., Sheppard, D.M., Enriquez de Salamanca, R., Olmos, A., Identification of two types of porphyria cuatnea tarda by measurement of erythrocyte uroporphyrinogen de carboxylase: An exception to the rule? (1989) Dermatologica, 178, pp. 206-208
• D'Alessandro, G.L., Grisso, D., Macri, A., Biolcati, G., Topi, G.C., Familial porphyria cutanea tarda with normal erythrocytic urodecarboxylase: An exception to the rule? (1989) Dermatologica, 178, pp. 206-208
• Méndez, M., Rossetti, M.V., Batlle, AM del, C., Parera, V.E., The role of inherited and acquired factors in the development of porphyria cutanea tarda in the Argentinean population (2005) J Am Acad Dermatol, 52, pp. 417-424
• Melito, V.A., Parera, V.E., Rossetti, M.V., Batlle, A., Manifestación de porfiria cutánea tardía en pacientes infectados con el virus de la inmunodeficiencia humana. (2006) Acta Bioquím Clin Latinoam, 40, pp. 29-34
• Sarkany, R., Cox, T., Autosomal recessive erythropoietic protoporphyria: A syndrome of severe photosensitivity and liver failure (1995) Q J Med, 88, pp. 541-549
• Whatley, S.D., Mason, N.G., Khan, M., Zamiri, M., Badminton, M.N., Missaoui, W.N., Dailey, T.A., Elder, G.H., Autosomal recessive erythropoietic protoporphyria in the United Kingdom: Prevalence and relationship to liver disease (2004) J Med Genet, 41, p. 105
• Gouya, L., Martin-Schmitt, C., Robreau, A.M., Austerlitz, F., Da Silva, V., Brun, P., Simonin, S., Deybach, J.C., Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria (2006) Am J Hum Genet, 78, pp. 2-14
• Kontos, A.P., Ozog, D., Bichakjian, C., Lim, H.W., Congenital erythropoietic porphyria associated with myelodisplasia presenting in a 72-year-old: Report of a case and review of the literature (2003) Br J Dermatol, 148, pp. 160-164
• Batlle AM del C. El Laboratorio de las Porfirias, en Porfirias y Porfirinas. Aspectos clínicos, bioquímicos y biología molecular. Actualizaciones Médico Bioquímicas. Ediciones Federación Bioquímica de la Provincia de Buenos Aires. Acta Bioquím Latinoamer 1997; 145-171Afonso, S.G., Chinarro, S., Stella, A.M., Lenczner, J.M., Batlle, AM del, C., Magnin, P.H., Uroporfirinógeno decarboxilasa eritrocitaria y hepática en Porfiria Cutánea Tardía. (1985) Rev Argent Dermatol, 66, pp. 12-23
• Tsai, S.F., Bishop, D.F., Desnick, R.J., Purification and properties of uroporphyrinogen III synthase from human erythrocytes (1987) J Biol Chem, 262, pp. 1268-1273
• Lim, C.K., Rideout, J.M., Wright, D.J., High-performance liquid chromatography of naturally occurring 8-, 7-, 6-, 5- and 4-carboxylic porphyrin isomers (1983) J Chromatogr, 282, pp. 629-641
• Parera, V.E., De Siervi, A., Varela, L.S., Rossetti, M.V., Batlle, A., Acute Porphyrias in the Argentinean population. A review (2003) Cell Mol Biol, 49, pp. 493-500
• Poh-Fitzpatrick, M.B., Wang, X., Anderson, K.E., Bloomer, J.R., Bolwell, B., Lichin, A.E., Erythropoietic protoporphyria: Altered phenotype after bone narrow transplantation for myelogeneous leukemia in a patient heteroallelic for ferrochelatase gene mutations (2002) J Am Acad Dermatol, 46, pp. 861-866
• Andersson, C., Lithner, F., Hypertension and renal disease in patients with acute intermittent porphyria (1994) J Intern Med, 236, pp. 169-175
• Andersson, C., Wikbergh, B., Stegmayr, B., Lithner, F., Renal symptomatology in patients with acute intermittent porphyria. A population-based study (2000) J Int Med, 248, pp. 319-325
• Batlle, AM del, C., Stella, A.M., Kaminsky, A.R., Kaminsky, C., Guzmán, H., Two cases of infantil Porphyria Cutanea Tarda. Succesful treatment with oral S-Adenosyl-L-Methionine and low dose of oral chloroquine (1987) Br J Dermatol, 116, pp. 407-415

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