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Clinical penetrance of hereditary hemochromatosis.

作者信息

Bacon Bruce R, Britton Robert S

出版信息

N Engl J Med. 2008 Jan 17;358(3):291-2. doi: 10.1056/NEJMe078215.

DOI:10.1056/NEJMe078215
PMID:18199868
Abstract
摘要

相似文献

1
Clinical penetrance of hereditary hemochromatosis.遗传性血色素沉着症的临床外显率。
N Engl J Med. 2008 Jan 17;358(3):291-2. doi: 10.1056/NEJMe078215.
2
Iron-overload-related disease in HFE hereditary hemochromatosis.HFE 遗传性血色素沉着症中与铁过载相关的疾病。
N Engl J Med. 2008 Jan 17;358(3):221-30. doi: 10.1056/NEJMoa073286.
3
Clinical consequences of iron overload in hemochromatosis homozygotes.纯合子血色素沉着症中铁过载的临床后果。
Blood. 2003 May 1;101(9):3351-3; discussion 3354-8. doi: 10.1182/blood-2002-11-3453.
4
Hemochromatosis and iron-overload screening in a racially diverse population.不同种族人群中的血色素沉着症和铁过载筛查
N Engl J Med. 2005 Apr 28;352(17):1769-78. doi: 10.1056/NEJMoa041534.
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Case report of a patient with non-alcoholic fatty liver disease, moderate iron overload who is homozygous for the S65C mutation in the HFE1 gene.
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6
Genetic predisposition to iron overload: prevalence and phenotypic expression of hemochromatosis-associated HFE-C282Y gene mutation.铁过载的遗传易感性：血色素沉着症相关HFE-C282Y基因突变的患病率及表型表达
Scand J Clin Lab Invest. 2006;66(2):83-100. doi: 10.1080/00365510500495616.
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Characteristics of HFE C282Y homozygotes younger than age 30 years.30岁以下HFE C282Y纯合子的特征。
Acta Haematol. 2004;112(4):219-21. doi: 10.1159/000081277.
8
Correlation between iron status and genetic hemochromatosis (codon C282Y) in a large German population.德国一大群人中铁状态与遗传性血色素沉着症（密码子C282Y）之间的相关性。
Isr Med Assoc J. 2004 Jan;6(1):30-3.
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Letter to the editor: regarding "Hemochromatosis genotypes and risk of iron overload-a meta-analysis".
Ann Epidemiol. 2011 Oct;21(10):796. doi: 10.1016/j.annepidem.2011.03.013. Epub 2011 May 24.
10
Natural history of hemochromatosis.
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1
MRI-Based Iron Phenotyping and Patient Selection for Next-Generation Sequencing of Non-Homeostatic Iron Regulator Hemochromatosis Genes.基于 MRI 的铁表型分析及非稳态铁调节基因遗传性血色素沉着症患者的下一代测序选择。
Hepatology. 2021 Nov;74(5):2424-2435. doi: 10.1002/hep.31982. Epub 2021 Jul 13.
2
Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study.妊娠是否会降低 HFE 血色病女性的铁过载？一项观察性前瞻性研究的结果。
BMC Pregnancy Childbirth. 2018 Feb 17;18(1):53. doi: 10.1186/s12884-018-1684-6.
3
Clinical burden of liver disease from hemochromatosis at an academic medical center.
某学术医学中心血色素沉着症所致肝病的临床负担
Hepatol Commun. 2017 May 18;1(5):453-459. doi: 10.1002/hep4.1048. eCollection 2017 Jul.
4
Association of Multiple Biomarkers of Iron Metabolism and Type 2 Diabetes: The EPIC-InterAct Study.铁代谢多种生物标志物与2型糖尿病的关联：欧洲癌症与营养前瞻性调查-INTERACT研究
Diabetes Care. 2016 Apr;39(4):572-81. doi: 10.2337/dc15-0257. Epub 2016 Feb 9.
5
Evidence for the high importance of co-morbid factors in HFE C282Y/H63D patients cared by phlebotomies: results from an observational prospective study.放血治疗的HFE C282Y/H63D患者中合并症因素高度重要性的证据：一项前瞻性观察研究的结果
PLoS One. 2013 Dec 5;8(12):e81128. doi: 10.1371/journal.pone.0081128. eCollection 2013.
6
Unusual presentation of hemochromatosis as isolated metacarpophalangeal joint osteoarthritis: a case report.血色沉着病以孤立性掌指关节骨关节炎为表现的罕见病例报告
Hand (N Y). 2011 Sep;6(3):329-32. doi: 10.1007/s11552-011-9335-7. Epub 2011 May 3.
7
Factors influencing disease phenotype and penetrance in HFE haemochromatosis.影响 HFE 血色病疾病表型和外显率的因素。
Hum Genet. 2010 Sep;128(3):233-48. doi: 10.1007/s00439-010-0852-1. Epub 2010 Jul 6.
8
Recent advances in iron metabolism and related disorders.铁代谢及相关疾病的最新进展。
Intern Emerg Med. 2010 Oct;5(5):393-400. doi: 10.1007/s11739-010-0387-4. Epub 2010 Apr 28.
9
Penetrance of NOD2/CARD15 genetic variants in the general population.NOD2/CARD15 基因变异在普通人群中的外显率。
CMAJ. 2010 Apr 20;182(7):661-5. doi: 10.1503/cmaj.090684. Epub 2010 Apr 6.
10
The diagnosis and management of hereditary haemochromatosis.遗传性血色素沉着症的诊断与管理
Clin Biochem Rev. 2010 Feb;31(1):3-8.