Kongenitale erythropoetische Porphyrie

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• 作者：C. Wenner ; N.J. Neumann ; PD Dr. J. Frank
• 关键词：Heme biosynthesis ; Gunther disease ; Porphyrias ; Uroporphyrinogen III synthetase ; Sunscreening agents
• 刊名：Der Hautarzt
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：67
• 期：3
• 页码：216-220
• 全文大小：537 KB
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• 作者单位：C. Wenner (1)
  N.J. Neumann (1)
  PD Dr. J. Frank (1)
  
  1. Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich Heine Universität Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland
  
• 刊物主题：Dermatology; Immunology; Allergology; Proctology;
• 出版者：Springer Berlin Heidelberg
• ISSN：1432-1173

文摘

Background Congenital erythropoetic porphria is a very rare type of autosomal recessive nonacute porphyria. Homozygous or compound heterozygous mutations in the uroporphyrinogen III consynthase gene cause a marked enzymatic deficiency of uroporphyrinogen III consynthase, the fourth enzyme along the heme biosynthetic pathway.