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2013, Número 2

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Med Cutan Iber Lat Am 2013; 41 (2)


Análise de mutações no gene da hemocromatose e ferritina sérica em pacientes com porfiria cutânea tardía

Souto SR, Curvo R, Carneiro S, Ferreira O, Porto LC, Macedo FJC

Idioma: Portugués
Referencias bibliográficas: 11
Paginas: 56-59
Archivo PDF: 97.87 Kb.


RESUMEN

Sin resumen


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Frank J. The porphyrias. In: Freedberg IM, Eisen AZ, Wolff K, et al. Fitzpatick’s Dermatology in Medicine. 6th ed. New York, NY: McGraw-Hill; 2003: 1435-66.

  2. Drage LA, Brandhagen DJ, Pittelkow MR. Association of porphyria cutanea tarda with hereditary haemochromatosis. J Am Acad Dermatol 2004; 51: 205-11.

  3. Roberts AG, Whatley SD, Morgan RR, Worwood M, Elder GH. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet 1997; 349: 321-3.

  4. Ellervik Ch, Birgens H, Tybjærg-Hansen A, Børge G. Nordestgaard BG. Hemochromatosis Genotypes and Risk of 31 Disease Endpoints: Meta- Analyses Including 66,000 Cases and 226,000 Controls. Hepatology 2007; 46: 1071-80.

  5. Silva MM, Trope B, Fonseca JCM, Maceira J, Figueira A. Porfiria Cutanea Tardia Sintomatica. Ana Brasil Dermatol 1990; 65: 196-7.

  6. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408.

  7. Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005; 352: 1769-78.

  8. Martinelli AL, Filho R, Cruz S, Franco R, Tavella M, Secaf M et al. Hereditary hemochromatosis in a Brazilian university hospital in Sao Paulo State (1990-2000). Genet Mol Res 2005; 4: 31-8.

  9. Martinelli AL, Zago MA, Roselino AM, Filho AB, Villanova MG, Secaf M, et al. Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. Am J Gastroenterol 2000; 95: 3516-21.

  10. Bonkovsky, HL, Poh-Fitzpatrick M, Pimstone, N, Obando J, Di Bisceglie A, Tattrie C et al. Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology 1998; 27: 1661-9.

  11. Stolzel U, Kostler E, Schuppan D, Richter M, Wollina U, Doss MO, et al. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol 2003; 139: 309-13.




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