GLA mutation as a risk factor for later life small vessel ischaemic disease.
作者信息
Meschia J F
机构信息
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
出版信息
Eur J Neurol. 2014;21(1):3-4. doi: 10.1111/ene.12216. Epub 2013 Jun 25.
Abstract
摘要
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本文引用的文献
1
p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.GLA 基因 p.E66Q 突变与老年日本男性大脑小血管闭塞的高风险相关。
Eur J Neurol. 2014;21(1):49-56. doi: 10.1111/ene.12214. Epub 2013 May 31.
2
Long-term outcome of enzyme-replacement therapy in advanced Fabry disease: evidence for disease progression towards serious complications.晚期法布里病酶替代治疗的长期结局：疾病进展导致严重并发症的证据。
J Intern Med. 2013 Oct;274(4):331-41. doi: 10.1111/joim.12077. Epub 2013 May 6.
3
Gene therapy for fabry disease: a review of the literature.法布里病的基因治疗：文献综述。
BioDrugs. 2013 Jun;27(3):237-46. doi: 10.1007/s40259-013-0032-7.
4
Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.法布瑞病的长期酶替代治疗：对肾脏、心脏和大脑的疗效。
Orphanet J Rare Dis. 2013 Mar 25;8:47. doi: 10.1186/1750-1172-8-47.
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Enzyme replacement therapy for Anderson-Fabry disease.安德森-法布里病的酶替代疗法。
Cochrane Database Syst Rev. 2013 Feb 28(2):CD006663. doi: 10.1002/14651858.CD006663.pub3.
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Multifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A gene.与 α-半乳糖苷酶 A 基因的 D313Y 突变相关的多灶性脑白质病变。
PLoS One. 2013;8(2):e55565. doi: 10.1371/journal.pone.0055565. Epub 2013 Feb 5.
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Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease.伴侣蛋白疗法最新进展：法布里病、GM1神经节苷脂贮积症和戈谢病。
Brain Dev. 2013 Jun;35(6):515-23. doi: 10.1016/j.braindev.2012.12.002. Epub 2013 Jan 3.
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Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies.法布雷病中一种药物伴侣对 α-半乳糖苷酶 A 活性和神经节苷脂 GD3 清除的安全性和药效学影响：两项 2 期临床研究报告。
Orphanet J Rare Dis. 2012 Nov 24;7:91. doi: 10.1186/1750-1172-7-91.
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Hereditary cerebral small vessel diseases: a review.遗传性脑小血管病：综述。
J Neurol Sci. 2012 Nov 15;322(1-2):25-30. doi: 10.1016/j.jns.2012.07.041. Epub 2012 Aug 4.
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Blood pressure, proteinuria and nephropathy in Fabry disease.法布瑞氏病患者的血压、蛋白尿和肾病。
Nephron Clin Pract. 2011;118(1):c43-8. doi: 10.1159/000320903. Epub 2010 Nov 11.
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