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遗传性转甲状腺素蛋白淀粉样变性伴多发性神经病:监测与管理

Hereditary Transthyretin Amyloidosis with Polyneuropathy: Monitoring and Management.

作者信息

Vélez-Santamaría Valentina, Nedkova-Hristova Velina, Morales de la Prida Moisés, Casasnovas Carlos

机构信息

Neuromuscular Unit, Neurology Department, Bellvitge University Hospital, Barcelona, Spain.

Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.

出版信息

Int J Gen Med. 2022 Dec 20;15:8677-8684. doi: 10.2147/IJGM.S338430. eCollection 2022.

DOI:10.2147/IJGM.S338430
PMID:36573111
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9789700/
Abstract

Our aim in this review is to discuss current treatments and investigational products and their effect on patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and provide suggestions for monitoring disease progression and treatment efficacy.

摘要

本综述的目的是讨论目前的治疗方法和研究性产品及其对遗传性转甲状腺素蛋白淀粉样变多发性神经病(ATTRv-PN)患者的影响,并为监测疾病进展和治疗效果提供建议。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d05/9789700/5b1cce376108/IJGM-15-8677-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d05/9789700/5b1cce376108/IJGM-15-8677-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d05/9789700/5b1cce376108/IJGM-15-8677-g0001.jpg

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本文引用的文献

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The Silent Period for Small Fiber Sensory Neuropathy Assessment in a Mixed Cohort of Transthyretin-Mediated Amyloidosis.转甲状腺素蛋白介导的淀粉样变性混合队列中小纤维感觉神经病变评估的静息期
Biomedicines. 2022 Aug 24;10(9):2073. doi: 10.3390/biomedicines10092073.
2
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS): 14-year update.接受转甲状腺素蛋白淀粉样变性结局调查(THAOS)的患者的临床和遗传特征:14 年的更新。
Orphanet J Rare Dis. 2022 Jun 18;17(1):236. doi: 10.1186/s13023-022-02359-w.
3
Guidelines and new directions in the therapy and monitoring of ATTRv amyloidosis.
ATTRv 淀粉样变治疗和监测的指南和新方向。
Amyloid. 2022 Sep;29(3):143-155. doi: 10.1080/13506129.2022.2052838. Epub 2022 Jun 2.
4
Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression.监测有症状遗传性转甲状腺素蛋白介导的淀粉样变性病和评估疾病进展的专家意见。
Orphanet J Rare Dis. 2021 Oct 3;16(1):411. doi: 10.1186/s13023-021-01960-9.
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CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis.CRISPR-Cas9 体内基因编辑治疗转甲状腺素蛋白淀粉样变性。
N Engl J Med. 2021 Aug 5;385(6):493-502. doi: 10.1056/NEJMoa2107454. Epub 2021 Jun 26.
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Lancet Neurol. 2021 Jan;20(1):49-59. doi: 10.1016/S1474-4422(20)30368-9. Epub 2020 Nov 16.
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