Fabry or not Fabry--a question of ascertainment.
作者信息
Houge Gunnar, Tøndel Camilla, Kaarbøe Oyvind, Hirth Asle, Bostad Leif, Svarstad Einar
出版信息
Eur J Hum Genet. 2011 Nov;19(11):1111. doi: 10.1038/ejhg.2011.87. Epub 2011 May 18.
Abstract
摘要
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本文引用的文献
1
Fabry disease in donor kidneys with 3- and 12-year follow-up after transplantation.供肾中的法布里病：移植后3年和12年随访
NDT Plus. 2010 Jun;3(3):303-305. doi: 10.1093/ndtplus/sfq036. Epub 2010 Apr 8.
2
Screening for Fabry disease in high-risk populations: a systematic review.对高危人群进行法布瑞氏病的筛查：一项系统性综述。
J Med Genet. 2010 Apr;47(4):217-22. doi: 10.1136/jmg.2009.072116. Epub 2009 Sep 24.
3
Fabry disease.法布里病
Pharmacol Ther. 2009 Apr;122(1):65-77. doi: 10.1016/j.pharmthera.2009.01.003. Epub 2009 Feb 8.
4
Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria.法布里病和微量白蛋白尿患儿及青少年肾活检中肾小球和血管变化的突出表现
Clin Ther. 2008;30 Suppl B:S42. doi: 10.1016/s0149-2918(08)80036-7.
5
[Fabry disease--a diagnostic and therapeutic challenge].[法布里病——诊断与治疗的挑战]
Tidsskr Nor Laegeforen. 2005 Apr 21;125(8):1004-6.
6
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.由于父系生殖系嵌合α-半乳糖苷酶A基因突变导致的法布里病复发。
Am J Med Genet A. 2005 Apr 1;134A(1):84-7. doi: 10.1002/ajmg.a.30533.
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