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红细胞生成性原卟啉病一例 被引量:2

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摘要 报道一例红细胞生成性原卟啉病患者临床和辅助检查结果的特点.该病临床较为少见,易出现误诊误治.
出处 《中华全科医师杂志》 2013年第12期1005-1006,共2页 Chinese Journal of General Practitioners
关键词 原卟啉病
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参考文献4

  • 1Schneider-Yin X,Gouya L, Meier-weinand A,et al. New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care. Eur J Pedialr,2000,159:719-725.
  • 2陈灏珠.实用内科学.13版.北京:人民卫生出版社,2010.1054.
  • 3Holme SA, Anstey AV, Finlay AY, et al. Erythropoietic protoporphyria in the U. K:clinical features and effect on quality of life. Br J Derrnatol,2006,155:574-581.
  • 4马俊红,肖生祥,安金刚,王晓鹏,许庆强,董颖颖,冯义国.红细胞生成性原卟啉病一家系亚铁螯合酶基因突变检测[J].中华皮肤科杂志,2010,43(2):85-87. 被引量:5

二级参考文献6

  • 1Nakahashi Y, Fujita H, Taketani S, et al. The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria. Proc Natl Acad Sci USA, 1992, 89(1 ): 281-285.
  • 2Lew, W A novel ferrochelatase gene mutation (IVS1-2 A→C) in erythropoietic protoporphyria. J Invest Dermatol, 2003, 121 (2): 425-427.
  • 3Taketani S, Inazawa J, Nakahashi Y,et al. Structure of the human ferrochelatase gene: Exon/intrun gene organization and location of the gene to chromosome 18. Eur J Biochem, 1992, 205 (1): 217- 222.
  • 4Gouya L, Puy H, Lamoril J, et al. Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation. Blood, 1999, 93(6): 2105-2110.
  • 5Gouya L, Martin-Schmitt C, Robreau AM, et al. Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet, 2006, 78 (1): 2-14.
  • 6Gouya L, Puy H, Robreau AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wild type FECH. Nat Genet, 2002, 30(1 ): 27-28.

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