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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1
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2
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J Med Genet. 2010 Apr;47(4):217-22. doi: 10.1136/jmg.2009.072116. Epub 2009 Sep 24.
3
Fabry disease.
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.
Clin Ther. 2008;30 Suppl B:S42. doi: 10.1016/s0149-2918(08)80036-7.
5
[Fabry disease--a diagnostic and therapeutic challenge].
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6
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.
Am J Med Genet A. 2005 Apr 1;134A(1):84-7. doi: 10.1002/ajmg.a.30533.
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