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红细胞生成原性卟啉病1例 被引量:5

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摘要 红细胞生成原性卟啉病(erythropoietic photoporphyria,EPP)是一种较少见的遗传性疾病,以血红素代谢过程中出现特征性的原卟啉在血液、红细胞、组织中累积和皮肤光敏感为特点[1],发病较早,临床较少见,且易误诊,现报告我院诊治的1例如下.
出处 《临床皮肤科杂志》 CAS CSCD 北大核心 2011年第6期361-362,共2页 Journal of Clinical Dermatology
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参考文献6

  • 1Herrero C,To-Figueras J,Badenas C,et al.Clinical,biochemical,and genetic study of 11 patients with erythropoietic protoporphyria including one with homozygous disease[J].Arch Dermatol,2007,143(9):1125-1129.
  • 2Bloomer J,Wang Y,Chen D.Level of expression of the nonmutant Ferrochelatase allele is a determinant of biochemical phenotype in a mouse model of erythropoietic protoporphyria[J].Gene Regul Syst Bio,2008,2:233-241.
  • 3Holme SA,Worwood M,Anstey AV,et al.Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria[J].Blood,2007,110(12):4108-4110.
  • 4Lecha M,Puy H,Deybach JC.Erythropoietic protoporphyria[J].Orphanet J Rare Dis,2009,4:19.
  • 5Holme SA,Anstey AV,Finlay AY,et al.Erythropoietic protoporphyria in the U.K.:clinical features and effect on quality of life[J].Br J Dermatol,2006,155(3):574-581.
  • 6Bayerl Ch.Beta-carotene in dermatology:Does it help?[J].Acta Dermatovenerol Alp Panonica Adriat,2008,17(4):160-162,164-166.

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