The heart in Anderson-Fabry disease and other lysosomal storage disorders.
作者信息
Linhart Ales, Elliott Perry M
机构信息
1st School of Medicine, Charles University, Prague, Czech Republic.
出版信息
Heart. 2007 Apr;93(4):528-35. doi: 10.1136/hrt.2005.063818.
Abstract
摘要
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本文引用的文献
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Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease.安德森-法布里病中心律失常的患病率及临床意义
Am J Cardiol. 2005 Sep 15;96(6):842-6. doi: 10.1016/j.amjcard.2005.05.033.
2
Coronary microvascular dysfunction in male patients with Anderson-Fabry disease and the effect of treatment with alpha galactosidase A.男性安德森-法布里病患者的冠状动脉微血管功能障碍及α-半乳糖苷酶A治疗的效果
Heart. 2006 Mar;92(3):357-60. doi: 10.1136/hrt.2004.054015. Epub 2005 Aug 5.
3
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.法布里杂合子中X染色体失活与临床受累情况的关系。捷克和斯洛伐克人群中α-半乳糖苷酶A基因的11种新突变。
J Mol Med (Berl). 2005 Aug;83(8):647-54. doi: 10.1007/s00109-005-0656-2. Epub 2005 Apr 2.
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Glycogen storage diseases presenting as hypertrophic cardiomyopathy.表现为肥厚型心肌病的糖原贮积病。
N Engl J Med. 2005 Jan 27;352(4):362-72. doi: 10.1056/NEJMoa033349.
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Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial.重组酸性α-葡萄糖苷酶（rhGAA）在经典型婴儿庞贝病患者中的安全性和有效性：一项II期临床试验的结果
Neuromuscul Disord. 2005 Jan;15(1):24-31. doi: 10.1016/j.nmd.2004.10.009. Epub 2004 Nov 26.
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Fabry disease: overall effects of agalsidase alfa treatment.法布里病：阿加糖酶α治疗的总体效果
Eur J Clin Invest. 2004 Dec;34(12):838-44. doi: 10.1111/j.1365-2362.2004.01424.x.
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Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy.晚发性肥厚型心肌病女性患者中法布里病的患病率。
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Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.法布里病的定义：法布里病结局调查中366例患者的基线临床表现。
Eur J Clin Invest. 2004 Mar;34(3):236-42. doi: 10.1111/j.1365-2362.2004.01309.x.
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Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: a prospective strain rate imaging study.法布里病患者酶替代治疗期间心脏功能的改善：一项前瞻性应变率成像研究。
Circulation. 2003 Sep 16;108(11):1299-301. doi: 10.1161/01.CIR.0000091253.71282.04. Epub 2003 Sep 2.
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