Characterization of untyped cardiac amyloidosis by mass spectrometry in a patient with Gly6Ser transthyretin polymorphism in fatal cardiogenic shock.
作者信息
Damy Thibaud, Plante-Bordeneuve Violaine, Dogan Ahmet
机构信息
Cardiology Department, AP-HP, groupe hospitalier Henri-Mondor-Albert-Chenevier, Créteil, Paris, France; Inserm, unité U955/08, Créteil, Paris, France; DHU ATVB and Université Paris Est Créteil, Paris, France; Réseau Amylose CHU Mondor, Créteil, Paris, France.
Réseau Amylose CHU Mondor, Créteil, Paris, France; Neurology Department, AP-HP, groupe hospitalier Henri-Mondor-Albert-Chenevier, Créteil, Paris, France.
出版信息
Arch Cardiovasc Dis. 2014 Dec;107(12):706-8. doi: 10.1016/j.acvd.2012.09.008. Epub 2013 Sep 23.
PMID:24070596
Abstract
摘要
相似文献
1
Characterization of untyped cardiac amyloidosis by mass spectrometry in a patient with Gly6Ser transthyretin polymorphism in fatal cardiogenic shock.在一名因致命性心源性休克而具有Gly6Ser转甲状腺素蛋白多态性的患者中，通过质谱法对未分型心脏淀粉样变性进行特征分析。
Arch Cardiovasc Dis. 2014 Dec;107(12):706-8. doi: 10.1016/j.acvd.2012.09.008. Epub 2013 Sep 23.
2
Transthyretin-related familial amyloidotic polyneuropathy found with abnormal urinalysis at a general health checkup.
Nephrology (Carlton). 2016 Apr;21(4):341-2. doi: 10.1111/nep.12610.
3
From hypertrophic cardiomyopathy to transthyretin amyloidosis: an unusual case and challenging diagnosis.从肥厚型心肌病到转甲状腺素蛋白淀粉样变性：一例罕见病例及具有挑战性的诊断
Pol Arch Intern Med. 2020 Feb 27;130(2):153-154. doi: 10.20452/pamw.15140. Epub 2020 Jan 14.
4
Non-Val30Met mutation, septal hypertrophy, and cardiac denervation in patients with mutant transthyretin amyloidosis.突变转甲状腺素蛋白淀粉样变患者中的非 Val30Met 突变、室间隔肥厚和心脏去神经支配。
ESC Heart Fail. 2019 Feb;6(1):122-130. doi: 10.1002/ehf2.12361. Epub 2018 Oct 4.
5
Cardiac amyloidosis.心脏淀粉样变性
Circulation. 2012 Sep 18;126(12):e178-82. doi: 10.1161/CIRCULATIONAHA.111.069195.
6
Amyloid heart disease mimicking hypertrophic cardiomyopathy.酷似肥厚型心肌病的淀粉样变心脏病
J Intern Med. 2005 Sep;258(3):225-30. doi: 10.1111/j.1365-2796.2005.01522.x.
7
Vitreal deposits in Val71Ala transthyretin amyloidosis.
Intern Med J. 2012 Jan;42(1):106-8. doi: 10.1111/j.1445-5994.2011.02615.x.
8
Cardiac amyloidosis: updates in diagnosis and management.心脏淀粉样变性：诊断与治疗进展。
Arch Cardiovasc Dis. 2013 Oct;106(10):528-40. doi: 10.1016/j.acvd.2013.06.051. Epub 2013 Sep 23.
9
Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature review.家族性转甲状腺素蛋白淀粉样变性伴孤立性心脏表型的罕见变异（p.Ser43Asn）：病例系列及文献复习。
Mol Genet Genomic Med. 2021 Dec;9(12):e1581. doi: 10.1002/mgg3.1581. Epub 2020 Dec 20.
10
Myopathic phenotype of familial amyloid polyneuropathy with a rare transthyretin variant: ATTR Ala45Asp.伴有罕见转甲状腺素蛋白变异体（ATTR Ala45Asp）的家族性淀粉样多神经病的肌病表型
Amyloid. 2014 Sep;21(3):216-7. doi: 10.3109/13506129.2014.932277. Epub 2014 Jun 23.
Zotero 插件