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背景红细胞生成性原卟啉病(EPP)是一种罕见的常染色体显性遗传病,其病因是亚铁原卟啉合成酶减少或活性缺乏所致,这种酶为亚铁血红素生物合成途径中最后的酶。外周血祖细胞此酶的缺乏导致多种组织的原卟啉沉着物累积。以前曾
Background Erythropoietic protoporphyria (EPP) is a rare autosomal dominant genetic disorder that is caused by a reduction or lack of activity of ferrous protoporphyrin synthase, an enzyme that is found in heme biosynthesis The last enzyme in the pathway. The lack of this enzyme in peripheral blood progenitor cells leads to the accumulation of protoporphyrins in many tissues. Before