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Diagnostic challenges in hereditary transthyretin amyloidosis with polyneuropathy: avoiding misdiagnosis of a treatable hereditary neuropathy.

作者信息

Cortese Andrea, Vegezzi Elisa, Lozza Alessandro, Alfonsi Enrico, Montini Alessandra, Moglia Arrigo, Merlini Giampaolo, Obici Laura

机构信息

IRCCS, C Mondino National Neurological Institute, Pavia, Italy.

Molecular Neuroscience, University College London Institute of Neurology, London, UK.

出版信息

J Neurol Neurosurg Psychiatry. 2017 May;88(5):457-458. doi: 10.1136/jnnp-2016-315262. Epub 2017 Feb 10.

DOI:10.1136/jnnp-2016-315262
PMID:28188196
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5529976/
Abstract
摘要

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本文引用的文献

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Schwann cell and endothelial cell damage in transthyretin familial amyloid polyneuropathy.转甲状腺素蛋白家族性淀粉样多神经病中的施万细胞和内皮细胞损伤
Neurology. 2016 Nov 22;87(21):2220-2229. doi: 10.1212/WNL.0000000000003362. Epub 2016 Oct 28.
2
Monitoring effectiveness and safety of Tafamidis in transthyretin amyloidosis in Italy: a longitudinal multicenter study in a non-endemic area.在意大利监测氯苯唑酸治疗转甲状腺素蛋白淀粉样变性的有效性和安全性：非流行地区的一项纵向多中心研究。
J Neurol. 2016 May;263(5):916-924. doi: 10.1007/s00415-016-8064-9. Epub 2016 Mar 16.
3
Genotype-phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France.法国转甲状腺素蛋白家族性淀粉样多神经病的基因型-表型相关性及病程
Ann Neurol. 2015 Dec;78(6):901-16. doi: 10.1002/ana.24519. Epub 2015 Oct 7.
4
Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy.晚发性进行性转甲状腺素相关淀粉样变神经病的诊断要点和陷阱。
J Neurol. 2013 Dec;260(12):3093-108. doi: 10.1007/s00415-013-7124-7. Epub 2013 Oct 8.
5
Amyloid neuropathy mimicking chronic inflammatory demyelinating polyneuropathy.淀粉样变性神经病，类似于慢性炎症性脱髓鞘性多发性神经病。
Muscle Nerve. 2012 Jan;45(1):26-31. doi: 10.1002/mus.22229.
6
Diagnosis of sporadic transthyretin Val30Met familial amyloid polyneuropathy: a practical analysis.散发性转甲状腺素 Val30Met 家族性淀粉样多神经病的诊断：实用分析。
Amyloid. 2011 Jun;18(2):53-62. doi: 10.3109/13506129.2011.565524. Epub 2011 Apr 5.
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Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP).散发性转甲状腺素蛋白家族性淀粉样多神经病（TTR-FAP）的诊断陷阱
Neurology. 2007 Aug 14;69(7):693-8. doi: 10.1212/01.wnl.0000267338.45673.f4.