Fabry disease.
作者信息
Nagueh S F
出版信息
Heart. 2003 Aug;89(8):819-20. doi: 10.1136/heart.89.8.819.
Abstract
摘要
相似文献
1
Fabry disease.法布里病
Heart. 2003 Aug;89(8):819-20. doi: 10.1136/heart.89.8.819.
2
Many Faces of Fabry's Cardiomyopathy.法布里心肌病的多种表现
JACC Cardiovasc Imaging. 2018 Apr;11(4):644-647. doi: 10.1016/j.jcmg.2017.10.018. Epub 2018 Jan 17.
3
Detection of Urinary Mulberry Bodies Leads to Diagnosis of Fabry Cardiomyopathy: A Simple Clue in the Urine Sediment.
Circ Heart Fail. 2017 Dec;10(12). doi: 10.1161/CIRCHEARTFAILURE.117.004538.
4
Atypical patterns of cardiac involvement in Fabry disease.法布里病中心脏受累的非典型模式。
BMJ Case Rep. 2016 Mar 17;2016:bcr2015213819. doi: 10.1136/bcr-2015-213819.
5
Electrocardiographic signs of hypertrophy in fabry disease-associated hypertrophic cardiomyopathy.
Acta Paediatr Suppl. 2002;91(439):21-7. doi: 10.1111/j.1651-2227.2002.tb03105.x.
6
Fabry disease: focus on cardiac manifestations and molecular mechanisms.法布里病：聚焦心脏表现与分子机制
Herz. 2002 Nov;27(7):699-702. doi: 10.1007/s00059-002-2429-9.
7
[Cardiac manifestations in Fabry disease].[法布里病的心脏表现]
Tidsskr Nor Laegeforen. 2000 Aug 30;120(20):2395-6.
8
Plot thickens: the progression of left ventricular 'hypertrophy' in Fabry disease.情况愈发复杂：法布里病中左心室“肥厚”的进展
Heart. 2024 Aug 14;110(17):1063-1064. doi: 10.1136/heartjnl-2024-324331.
9
[Left ventricular hypertrophy and end-stage renal failure of unknown etiology: Fabry disease?].[左心室肥厚与病因不明的终末期肾衰竭：法布里病？]
Rev Clin Esp. 2012 May;212(5):265-6. doi: 10.1016/j.rce.2011.09.003. Epub 2011 Nov 21.
10
Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.一名携带错义突变R118C的患者表现为左心室心尖肥厚的法布里病。
Rev Port Cardiol. 2014 Mar;33(3):183.e1-5. doi: 10.1016/j.repc.2013.11.005. Epub 2014 Mar 21.
引用本文的文献
1
Chronic Cough as the First Clinical Sign of Fabry Disease: A Case Report.以慢性咳嗽为首发临床症状的法布里病：一例报告
Cureus. 2024 Jul 30;16(7):e65716. doi: 10.7759/cureus.65716. eCollection 2024 Jul.
2
Fabry disease - current data and therapeutic approaches.法布里病——现有数据和治疗方法。
Rom J Morphol Embryol. 2021 Jan-Mar;62(1):5-11. doi: 10.47162/RJME.62.1.01.
3
Left to themselves: Time to target chronic pain in childhood rare diseases.留给他们自己：是时候针对儿童罕见病的慢性疼痛进行靶向治疗了。
Neurosci Biobehav Rev. 2021 Jul;126:276-288. doi: 10.1016/j.neubiorev.2021.03.008. Epub 2021 Mar 24.
4
Otological aspects of Fabry disease in patients with normal hearing.听力正常的法布里病患者的耳科问题
Nagoya J Med Sci. 2019 Aug;81(3):469-475. doi: 10.18999/nagjms.81.3.469.
5
Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.通过使用高通量且具有成本效益的方法——DNA 质谱法，提高女性法布瑞病新生儿筛查的灵敏度。
J Hum Genet. 2018 Jan;63(1):1-8. doi: 10.1038/s10038-017-0366-y. Epub 2017 Nov 15.
6
Recent Advances in Understanding and Managing Cardiomyopathy.心肌病理解与管理的最新进展
F1000Res. 2017 Sep 7;6:1659. doi: 10.12688/f1000research.11669.1. eCollection 2017.
7
Role of Cardiac MRI in the Assessment of Cardiomyopathy.心脏磁共振成像在心肌病评估中的作用
Curr Treat Options Cardiovasc Med. 2015 Nov;17(11):53. doi: 10.1007/s11936-015-0410-1.
8
Endomyocardial biopsies in patients with left ventricular hypertrophy and a common Chinese later-onset Fabry mutation (IVS4 + 919G > A).左心室肥厚且携带常见中国晚发型法布里突变（IVS4 + 919G＞A）患者的心肌内膜活检
Orphanet J Rare Dis. 2014 Jul 1;9:96. doi: 10.1186/1750-1172-9-96.
9
Successful management of enzyme replacement therapy in related fabry disease patients with severe adverse events by switching from agalsidase Beta (fabrazyme(®)) to agalsidase alfa (replagal (®)).通过从阿加糖酶β（法布赞（®））转换为阿加糖酶α（瑞佩乐（®））成功管理相关法布里病患者发生严重不良事件时的酶替代疗法。
JIMD Rep. 2015;15:105-11. doi: 10.1007/8904_2014_304. Epub 2014 Apr 10.
10
Early cardiac changes in children with anderson-fabry disease.安德森-法布里病患儿的早期心脏变化。
JIMD Rep. 2013;11:53-64. doi: 10.1007/8904_2013_222. Epub 2013 Apr 2.
本文引用的文献
1
Fabry disease: a mimic for obstructive hypertrophic cardiomyopathy?法布里病：会是梗阻性肥厚型心肌病的一种伪装吗？
Heart. 2003 Aug;89(8):929-30. doi: 10.1136/heart.89.8.929.
2
Early detection of Fabry cardiomyopathy by tissue Doppler imaging.通过组织多普勒成像早期检测法布里心肌病。
Circulation. 2003 Apr 22;107(15):1978-84. doi: 10.1161/01.CIR.0000061952.27445.A0. Epub 2003 Mar 31.
3
Sisters with atypical Fabry's disease with complete atrioventricular block.患有完全性房室传导阻滞的非典型法布里病姐妹。
Heart. 2003 Jan;89(1):e2. doi: 10.1136/heart.89.1.e2.
4
Cardiac manifestations of Anderson-Fabry disease in heterozygous females.杂合子女性安德森-法布里病的心脏表现
J Am Coll Cardiol. 2002 Nov 6;40(9):1668-74. doi: 10.1016/s0735-1097(02)02380-x.
5
Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.晚发性肥厚型心肌病男性患者中安德森-法布里病的患病率。
Circulation. 2002 Mar 26;105(12):1407-11. doi: 10.1161/01.cir.0000012626.81324.38.
6
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease.重组人α-半乳糖苷酶A替代疗法在法布里病中的安全性和有效性。
N Engl J Med. 2001 Jul 5;345(1):9-16. doi: 10.1056/NEJM200107053450102.
7
Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy.半乳糖输注疗法改善法布里病心脏变异型的心脏功能。
N Engl J Med. 2001 Jul 5;345(1):25-32. doi: 10.1056/NEJM200107053450104.
8
Adeno-associated viral vector-mediated gene transfer results in long-term enzymatic and functional correction in multiple organs of Fabry mice.腺相关病毒载体介导的基因转移可在法布里病小鼠的多个器官中实现长期酶学和功能纠正。
Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2676-81. doi: 10.1073/pnas.051634498.
9
Folding of secretory and membrane proteins.分泌蛋白和膜蛋白的折叠
N Engl J Med. 1998 Dec 3;339(23):1688-95. doi: 10.1056/NEJM199812033392307.
10
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.患有左心室肥厚的男性中的一种非典型法布里病变体。
N Engl J Med. 1995 Aug 3;333(5):288-93. doi: 10.1056/NEJM199508033330504.
Zotero 插件