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Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload.

作者信息

Elder G H, Worwood M

出版信息

Hepatology. 1998 Jan;27(1):289-91. doi: 10.1002/hep.510270142.

DOI:10.1002/hep.510270142
PMID:9425949
Abstract
摘要

相似文献

1
Mutations in the hemochromatosis gene, porphyria cutanea tarda, and iron overload.血色素沉着症基因的突变、迟发性皮肤卟啉症与铁过载。
Hepatology. 1998 Jan;27(1):289-91. doi: 10.1002/hep.510270142.
2
S65c frequency in Italian patients with hemochromatosis, porphyria cutanea tarda and chronic viral hepatitis with iron overload.意大利患有血色素沉着症、迟发性皮肤卟啉症和伴有铁过载的慢性病毒性肝炎患者的S65c频率。
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3
[Study of the gene of hemochromatosis in first degree relatives of patient with porphyria cutanea tarda].
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[Significance and prevalence of the C282Y gene mutation of primary hemochromatosis in the pathogenesis of pophyria cutanea tarda].[原发性血色素沉着症C282Y基因突变在迟发性皮肤卟啉病发病机制中的意义及患病率]
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Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection.巴西患者的迟发性皮肤卟啉症：与C282Y基因突变型血色素沉着症及丙型肝炎病毒感染的关联
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Screening of patients with iron overload to identify hemochromatosis and porphyria cutanea tarda.对铁过载患者进行筛查，以识别血色素沉着症和迟发性皮肤卟啉病。
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7
The frequency of hemochromatosis-associated alleles is increased in British patients with sporadic porphyria cutanea tarda.在英国散发性迟发性皮肤卟啉症患者中，血色素沉着症相关等位基因的频率增加。
Hepatology. 1997 Jan;25(1):159-61. doi: 10.1002/hep.510250129.
8
Iron status and HFE mutations in first-degree relatives of patients with sporadic porphyria cutanea tarda, in a Mediterranean area.地中海地区散发性迟发性皮肤卟啉症患者一级亲属的铁状态和HFE突变
J Intern Med. 2005 Apr;257(4):389-90; author reply 391-3. doi: 10.1111/j.1365-2796.2005.01462.x.
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Hemojuvelin and hepcidin gene mutations in patients with porphyria cutanea tarda from Southern France.
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Haemochromatosis gene mutations and response to chloroquine in sporadic porphyria cutanea tarda.血色素沉着症基因突变与散发性迟发性皮肤卟啉症对氯喹的反应
Acta Derm Venereol. 2006;86(3):279-80. doi: 10.2340/00015555-0061.

引用本文的文献

1
[Diagnosis of the porphyrias : From A (as in aminolevulinic acid) to Z (as in zinc protoporphyrin)].[卟啉病的诊断：从A（如δ-氨基-γ-酮戊酸）到Z（如锌原卟啉）]
Hautarzt. 2016 Mar;67(3):201-6. doi: 10.1007/s00105-015-3741-7.
2
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.
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Sun, iron, alcohol and intrinsic liver disease: a recipe for failure.阳光、铁、酒精与内在肝脏疾病：失败的组合。
BMJ Case Rep. 2013 Jul 2;2013:bcr2013200158. doi: 10.1136/bcr-2013-200158.
4
Down-regulation of hepcidin in porphyria cutanea tarda.迟发性皮肤卟啉症中血浆铁调素的下调
Blood. 2008 Dec 1;112(12):4723-8. doi: 10.1182/blood-2008-02-138222. Epub 2008 Sep 22.
5
Role of HFE gene mutations in liver diseases other than hereditary hemochromatosis.HFE基因突变在除遗传性血色素沉着症之外的肝脏疾病中的作用。
Curr Gastroenterol Rep. 1999 Feb-Mar;1(1):30-7. doi: 10.1007/s11894-999-0084-5.
6
Diagnosis and management of porphyria.卟啉病的诊断与管理
BMJ. 2000 Jun 17;320(7250):1647-51. doi: 10.1136/bmj.320.7250.1647.
7
Finding the iron in the melting pot--practical use of a new genetic assay for hereditary hemochromatosis.在熔炉中找到铁元素——一种用于遗传性血色素沉着症的新型基因检测方法的实际应用
West J Med. 1998 Jun;168(6):525-7.