Coproporphyrinogen-oxidase deficiency in hereditary coproporphyria.
作者信息
Nordmann Y, Grandchamp B, Phung N, de Verneuil H, Grelier M, Neiré J
出版信息
Lancet. 1977 Jan 15;1(8003):140. doi: 10.1016/s0140-6736(77)91725-1.
PMID:64669
Abstract
摘要
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Coproporphyrinogen-oxidase deficiency in hereditary coproporphyria.遗传性粪卟啉病中的粪卟啉原氧化酶缺乏症。
Lancet. 1977 Jan 15;1(8003):140. doi: 10.1016/s0140-6736(77)91725-1.
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[Demonstration of hereditary enzyme defect in coproporphyria].[遗传性粪卟啉原血症中遗传性酶缺陷的证明]
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Coexistence of hereditary coproporphyria and epilepsy: coproporphyrinogen oxidase deficiency in liver and kidney.遗传性粪卟啉病与癫痫共存：肝脏和肾脏中粪卟啉原氧化酶缺乏
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Deficiency of hepatic coproporphyrinogen oxidase in hereditary coproporphyria.遗传性粪卟啉原氧化酶缺乏症导致遗传性粪卟啉病。
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The primary enzyme defect in hereditary coproporphyria.遗传性粪卟啉病的主要酶缺陷。
Lancet. 1976 Dec 4;2(7997):1217-9. doi: 10.1016/s0140-6736(76)91143-0.
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Harderoporphyria: a variant hereditary coproporphyria.重型血卟啉病：一种变异型遗传性粪卟啉病。
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Homozygous hereditary coproporphyria caused by an arginine to tryptophane substitution in coproporphyrinogen oxidase and common intragenic polymorphisms.由原卟啉原氧化酶中精氨酸替换为色氨酸及常见基因内多态性引起的纯合子遗传性粪卟啉病。
Hum Mol Genet. 1994 Mar;3(3):477-80. doi: 10.1093/hmg/3.3.477.
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Hereditary coproporphyria: demonstration of a genetic defect in coproporphyrinogen metabolism.遗传性粪卟啉原血症：粪卟啉原代谢中遗传缺陷的证明
Monogr Hum Genet. 1978;10:217-22. doi: 10.1159/000401596.
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Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria.新生儿期起病的遗传性粪卟啉病：遗传性粪卟啉病的一种新变体
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Structural basis of hereditary coproporphyria.遗传性粪卟啉原增多症的结构基础。
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Ferrochelatase and N-alkylated porphyrins.亚铁螯合酶与N-烷基化卟啉
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