• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

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。

Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family.

作者信息

Lazaro P, de Salamanca R E, Elder G H, Villaseca M L, Chinarro S, Jaqueti G

出版信息

Br J Dermatol. 1984 May;110(5):613-7. doi: 10.1111/j.1365-2133.1984.tb04687.x.

DOI:10.1111/j.1365-2133.1984.tb04687.x
PMID:6722030
Abstract

A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that causes greater than 95% suppression of erythrocyte uroporphyrinogen decarboxylase activity.

摘要

本文描述了一名患有肝红细胞生成性卟啉症（HEP）的患者。通过家系研究表明，他对于一种导致红细胞尿卟啉原脱羧酶活性被抑制超过95%的基因是纯合子。

相似文献

1
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。
Br J Dermatol. 1984 May;110(5):613-7. doi: 10.1111/j.1365-2133.1984.tb04687.x.
2
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
Am J Hum Genet. 1984 May;36(3):613-22.
3
Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage.肝红细胞生成性卟啉症：一个三代家系的临床、生化及酶学研究
N Engl J Med. 1987 Mar 12;316(11):645-50. doi: 10.1056/NEJM198703123161101.
4
Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity.肝红细胞生成性卟啉病中尿卟啉原脱羧酶缺乏症：遗传异质性的进一步证据。
Br J Dermatol. 1990 Mar;122(3):365-70. doi: 10.1111/j.1365-2133.1990.tb08285.x.
5
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
Clin Biochem. 1989 Jun;22(3):163-8. doi: 10.1016/s0009-9120(89)80072-4.
6
Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda?肝红细胞生成性卟啉症：一种新的尿卟啉原脱羧酶缺陷还是纯合性迟发性皮肤卟啉症？
Lancet. 1981 Apr 25;1(8226):916-9. doi: 10.1016/s0140-6736(81)91615-9.
7
Identification of two types of porphyria cutanea tarda by measurement of erythrocyte uroporphyrinogen decarboxylase.通过测量红细胞尿卟啉原脱羧酶鉴别两种迟发性皮肤卟啉症
Clin Sci (Lond). 1980 Jun;58(6):477-84. doi: 10.1042/cs0580477.
8
Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.一名轻度肝红细胞生成性卟啉症患者的尿卟啉原脱羧酶免疫化学研究。
J Clin Invest. 1987 May;79(5):1533-7. doi: 10.1172/JCI112985.
9
[Porphyria cutanea tarda in a 4-year-old child with uroporphyrinogen decarboxylase deficiency].[一名4岁尿卟啉原脱羧酶缺乏儿童的迟发性皮肤卟啉症]
Pediatrie. 1986 Dec;41(8):617-27.
10
[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.

引用本文的文献

1
Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.卟啉病诊断——第1部分：卟啉病概述
Curr Protoc Hum Genet. 2015 Jul 1;86:17.20.1-17.20.26. doi: 10.1002/0471142905.hg1720s86.
2
Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.误诊为虐待儿童的肝红细胞生成性卟啉病：携带新型尿卟啉原脱羧酶突变的同胞的皮肤、关节和血液学表现
Arch Dermatol. 2010 May;146(5):529-33. doi: 10.1001/archdermatol.2010.89.
3
Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mapping.
小鼠尿卟啉原脱羧酶：cDNA克隆、表达及定位
Mamm Genome. 1996 May;7(5):349-52. doi: 10.1007/s003359900101.
4
Hepatoerythropoietic porphyria precipitated by viral hepatitis.病毒性肝炎诱发的肝红细胞生成性卟啉病。
Gut. 1993 Nov;34(11):1632-4. doi: 10.1136/gut.34.11.1632.
5
Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.一个有两例肝红细胞生成性卟啉病患者的家庭中尿卟啉原脱羧酶缺乏症的分子分析。
J Clin Invest. 1986 Feb;77(2):431-5. doi: 10.1172/JCI112321.
6
Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.一名轻度肝红细胞生成性卟啉症患者的尿卟啉原脱羧酶免疫化学研究。
J Clin Invest. 1987 May;79(5):1533-7. doi: 10.1172/JCI112985.
7
Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.
Hum Genet. 1988 Jan;78(1):101-2. doi: 10.1007/BF00291248.
8
Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.两名肝红细胞生成性卟啉症患者中人类尿卟啉原脱羧酶基因座新突变（R292G）及缺失的特征分析
Hum Genet. 1992 Jul;89(5):548-52. doi: 10.1007/BF00219182.