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Volumn 76, Issue 1, 2015, Pages 52-53

Extreme photosensitivity in a patient with erythropoietic protoporphyria

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; COMPLICATION; HUMAN; MALE; MIDDLE AGED; PATHOLOGY; PHOTOSENSITIVITY DISORDERS; PROTOPORPHYRIA, ERYTHROPOIETIC; SKIN;

EID: 84920771617     PISSN: 17508460     EISSN: None     Source Type: Journal    
DOI: 10.12968/hmed.2015.76.1.52     Document Type: Article
Times cited : (2)

References (8)
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    • Balwani M, Desnick RJ (2012) The porphyrias: advances in diagnosis and treatment. Blood 120(23): 4496-504 (doi: 10.1182/asheducation-2012.1.19)
    • (2012) Blood , vol.120 , Issue.23 , pp. 4496-4504
    • Balwani, M.1    Desnick, R.J.2
  • 3
    • 79955694697 scopus 로고    scopus 로고
    • UK experience of liver transplantation for erythropoietic protoporphyria
    • Dowman JK, Gunson BK, Mirza DF, Badmington MN, Newsome PN and UK Liver Selection and Allocation Working Party (2011) UK experience of liver transplantation for erythropoietic protoporphyria. J Inherit Metabol Dis 34(2): 539-45 (doi: 10.1007/s10545-010-9272-6)
    • (2011) J Inherit Metabol Dis , vol.34 , Issue.2 , pp. 539-545
    • Dowman, J.K.1    Gunson, B.K.2    Mirza, D.F.3    Badmington, M.N.4    Newsome, P.N.5
  • 4
    • 29244454253 scopus 로고    scopus 로고
    • Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria
    • Gouya Y, Martin-Schmitt C, Robreau AM et al (2006) Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Gen 78(1): 2-14 (doi: 10.1086/498620)
    • (2006) Am J Hum Gen , vol.78 , Issue.1 , pp. 2-14
    • Gouya, Y.1    Martin-Schmitt, C.2    Robreau, A.M.3
  • 5
    • 58349109469 scopus 로고    scopus 로고
    • An alpha-melanocyte-stimulating hormone analogue in erythrocyte protoporphyria
    • Harms J, Lautenschlager S, Minder CE, Minder EI (2009) An alpha-melanocyte-stimulating hormone analogue in erythrocyte protoporphyria. N Engl J Med 360(3): 306-7 (doi: 10.1056/NEJMc0805682)
    • (2009) N Engl J Med , vol.360 , Issue.3 , pp. 306-307
    • Harms, J.1    Lautenschlager, S.2    Minder, C.E.3    Minder, E.I.4
  • 6
    • 30444434611 scopus 로고    scopus 로고
    • Liver transplantation for erythropoietic protoporphyria liver disease
    • McGuire BM, Bonkovsky HL, Carithers RL Jr et al (2005) Liver transplantation for erythropoietic protoporphyria liver disease. Liver Transpl 11(12): 1590-6 (doi: org/10.1002/lt.20620)
    • (2005) Liver Transpl , vol.11 , Issue.12 , pp. 1590-1596
    • McGuire, B.M.1    Bonkovsky, H.L.2    Carithers, R.L.3
  • 7
    • 77749251871 scopus 로고    scopus 로고
    • Porphyrias
    • Puy H, Gouya Y, Deybach JC (2010) Porphyrias. Lancet 375(9718): 924-37 (doi: 10.1016/S0140-6736(09)61925-5)
    • (2010) Lancet , vol.375 , Issue.9718 , pp. 924-937
    • Puy, H.1    Gouya, Y.2    Deybach, J.C.3
  • 8
    • 51149108520 scopus 로고    scopus 로고
    • C-terminal deletions in the alas2 gene lead to gain of function and cause x-linked dominant protoporphyria without anemia or iron overload
    • Whatley SD, Ducamp S, Gouya Y et al (2008) C-terminal deletions in the alas2 gene lead to gain of function and cause x-linked dominant protoporphyria without anemia or iron overload. Am J Hum Genet 83: 408-14 (doi: 10.1016/j.ajhg.2008.08.003)
    • (2008) Am J Hum Genet , vol.83 , pp. 408-414
    • Whatley, S.D.1    Ducamp, S.2    Gouya, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.