用户:Jameswalker yu/急性间歇性紫质症
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急性间歇性紫质症(Acute intermittent porphyria ,简称AIP。也称作 Swedish porphyria, pyrroloporphyria和 intermittent acute porphyria)是一种参与紫质合成中的胆色素原脱氨酶(英语:Porphobilinogen deaminase)部分缺陷造成之罕见体染色体神经内脏疾病。是最常见的急性紫质症,盛行率约10万分之5[1]
- Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: The Metabolic and Molecular Basis of Inherited Disease, 8th ed, Scriver CR, Beaudet AL, Sly WS, et al. (Eds), McGraw-Hill, New York 2001. p.2991..