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迟发性皮肤卟啉症组:它们在血红素生物合成酶缺陷中的作用

[The porphyria cutanea tarda group: their role among the enzyme defects of heme biosynthesis].

作者信息

Adrien A, Guillet G

出版信息

Sem Hop. 1984 Apr 12;60(16):1148-52.

PMID:6326308
Abstract

Porphyria cutanea tarda (PCT) is the most common porphyria. In contrast to the other porphyrias, which are undisputably hereditary, PCT was long considered to be acquired. However, the recent demonstration of a defect in uroporphyrinogen decarboxylase suggests that PCT is supported by a genetic factor. Though the hereditary or acquired nature of the enzymatic defect is still under debate, it seems that the disease has a polygenic origin involving an impairment of iron metabolism and a specific genetic background.

摘要

迟发性皮肤卟啉症(PCT)是最常见的卟啉症。与其他卟啉症不同,其他卟啉症无疑是遗传性的,而PCT长期以来被认为是后天获得性的。然而,最近尿卟啉原脱羧酶缺陷的发现表明,PCT存在遗传因素。尽管酶缺陷的遗传或后天性质仍在争论中,但该病似乎具有多基因起源,涉及铁代谢受损和特定的遗传背景。

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1
[The porphyria cutanea tarda group: their role among the enzyme defects of heme biosynthesis].迟发性皮肤卟啉症组:它们在血红素生物合成酶缺陷中的作用
Sem Hop. 1984 Apr 12;60(16):1148-52.
2
[Porphyria cutanea tarda].迟发性皮肤卟啉病
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The enzymatic defects in porphyria cutanea tarda and variegate porphyria.迟发性皮肤卟啉症和杂色卟啉症中的酶缺陷。
Acta Derm Venereol Suppl (Stockh). 1982;100:51-6.
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Decreased hepatic uroporphyrinogen decarboxylase activity in porphyria cutanea tarda.迟发性皮肤卟啉症中肝脏尿卟啉原脱羧酶活性降低。
N Engl J Med. 1982 Apr 1;306(13):766-9. doi: 10.1056/NEJM198204013061302.
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Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family.肝红细胞生成性卟啉症是迟发性皮肤卟啉症的纯合子形式吗?一个西班牙家庭中尿卟啉原脱羧酶缺乏症的遗传情况。
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Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.迟发性皮肤卟啉症和肝红细胞生成性卟啉症中尿卟啉原脱羧酶的酶学和免疫学研究
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Genetics and pathogenesis of human uroporphyrinogen decarboxylase defects.人类尿卟啉原脱羧酶缺陷的遗传学与发病机制
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[Chronic hepatic porphyria with uroporphyrinogen decarboxylase defect in four generations (author's transl)].四代人中存在尿卟啉原脱羧酶缺陷的慢性肝卟啉症(作者译)
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The enzymatic defect in porphyria cutanea tarda.迟发性皮肤卟啉症中的酶缺陷。
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