protoporphyria

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英文文献

  • Pharmacokinetics and Pharmacodynamics of Afamelanotide and its Clinical Use in Treating Dermatologic Disorders.
  • Minder EI1, Barman-Aksoezen J2, Schneider-Yin X2.
  • Clinical pharmacokinetics.Clin Pharmacokinet.2017 Aug;56(8):815-823. doi: 10.1007/s40262-016-0501-5.
  • PMID 28063031
  • Cimetidine/lactulose therapy ameliorates erythropoietic protoporphyria-related liver injury.
  • Fujimori N1, Komatsu M1, Tanaka N2, Iwaya M3, Nakano H4, Sugiura A1, Yamazaki T1, Shibata S1, Iwaya Y1, Muraki T1, Ichikawa Y1, Kimura T1, Joshita S1, Umemura T1, Matsumoto A1, Tanaka E1.
  • Clinical journal of gastroenterology.Clin J Gastroenterol.2017 Jul 4. doi: 10.1007/s12328-017-0760-1. [Epub ahead of print]
  • PMID 28676994
  • Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.
  • Balwani M1, Naik H1, Anderson KE2, Bissell DM3, Bloomer J4, Bonkovsky HL5, Phillips JD6, Overbey JR7, Wang B3, Singal AK4, Liu LU8, Desnick RJ1.
  • JAMA dermatology.JAMA Dermatol.2017 Jun 14. doi: 10.1001/jamadermatol.2017.1557. [Epub ahead of print]
  • PMID 28614581

和文文献

  • 症例報告 フェロケラターゼ遺伝子のナンセンス変異と多型との複合ヘテロ接合による骨髄性プロトポルフィリン症を認めた1家系
  • 日本皮膚科学会雑誌 = The Japanese journal of dermatology 127(12), 2641-2645, 2017-11
  • NAID 40021381008
  • 症例報告 骨髄異形成症候群に生じた骨髄性プロトポルフィリン症の1例
  • 臨床皮膚科 = Japanese journal of clinical dermatology 71(10), 837-841, 2017-09
  • NAID 40021318006
  • 肝障害を契機に遺伝子学的に診断され,肝生検で経時的な線維化の進行を確認できた骨髄性プロトポルフィリン症の1例

関連リンク

Erythropoietic protoporphyria (EPP) is a relatively mild form of porphyria, although very painful, which arises from a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. : 525 The severity ...
20 Jun 2012 ... Protoporphyria. The term protoporphyria now encompasses 2 clinically similar but distinct disorders that most often result from hereditary mutations in 2 different genes.

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Erythropoietic protoporphyriaالترجمة الفورية للصفحةErythropoietic protoporphyriaprotoporphyria of blood porphyriaErythropoietic protoporphyriaErythropoietic protoporphyria



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