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A case of hereditary haemochromatosis in a patient with extrapyramidal syndrome.

作者信息

Rosana Angelo, La Rosa Lucia

机构信息

Servizio di Immunoematologia e Medicina Trasfusionale, Vimercate, Italy.

出版信息

Blood Transfus. 2007 Nov;5(4):241-3. doi: 10.2450/2007.0028-07.

DOI:10.2450/2007.0028-07
PMID:19204780
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2581907/
Abstract
摘要

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[Frequency of HFE gene mutations and genotype-phenotype correlations in patients with hereditary hemochromatosis in Switzerland].[瑞士遗传性血色素沉着症患者中HFE基因突变频率及基因型-表型相关性]
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Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort.葡萄牙队列中HFE常见突变与帕金森病、阿尔茨海默病及轻度认知障碍的关联
BMC Neurol. 2006 Jul 6;6:24. doi: 10.1186/1471-2377-6-24.
2
Iron, brain ageing and neurodegenerative disorders.铁、脑衰老与神经退行性疾病
Nat Rev Neurosci. 2004 Nov;5(11):863-73. doi: 10.1038/nrn1537.
3
Does cellular iron dysregulation play a causative role in Parkinson's disease?细胞铁调节异常在帕金森病中是否起致病作用？
Ageing Res Rev. 2004 Jul;3(3):327-43. doi: 10.1016/j.arr.2004.01.003.
4
Mutations in the hemochromatosis gene (HFE), Parkinson's disease and parkinsonism.血色素沉着症基因（HFE）突变、帕金森病与帕金森综合征。
Neurosci Lett. 2003 Sep 11;348(2):117-9. doi: 10.1016/s0304-3940(03)00713-4.
5
Oxidative stress in Parkinson's disease.帕金森病中的氧化应激
Ann Neurol. 2003;53 Suppl 3:S26-36; discussion S36-8. doi: 10.1002/ana.10483.
6
Genetic haemochromatosis: genes and mutations associated with iron loading.遗传性血色素沉着症：与铁负荷相关的基因和突变
Best Pract Res Clin Haematol. 2002 Jun;15(2):261-76. doi: 10.1016/s1521-6926(02)90207-0.
7
Association study between iron-related genes polymorphisms and Parkinson's disease.铁相关基因多态性与帕金森病的关联研究。
J Neurol. 2002 Jul;249(7):801-4. doi: 10.1007/s00415-002-0704-6.
8
The Cys282Tyr polymorphism in the HFE gene in Australian Parkinson's disease patients.澳大利亚帕金森病患者中HFE基因的Cys282Tyr多态性
Neurosci Lett. 2002 Jul 19;327(2):91-4. doi: 10.1016/s0304-3940(02)00398-1.
9
Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers.铁代谢紊乱的最新进展：突变、机制及修饰因素
Hum Mol Genet. 2001 Oct 1;10(20):2181-6. doi: 10.1093/hmg/10.20.2181.