[Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene].
作者信息
Politei J M, Pagano M A, Dubrovsky A, Pereira F, Matte U, Burin M, Giugliani R
出版信息
Rev Neurol. 2005;41(8):506-7.
PMID:16224739
Abstract
摘要
相似文献
1
2
Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene.法布里病家族中的巨长基底动脉异常伴血栓形成及α-半乳糖苷酶A基因新突变
Brain. 2005 Sep;128(Pt 9):2078-83. doi: 10.1093/brain/awh546. Epub 2005 Jun 9.
3
Cerebral hemorrhage in Fabry's disease.法布里病性脑出血。
J Hum Genet. 2010 Apr;55(4):259-61. doi: 10.1038/jhg.2010.18. Epub 2010 Mar 19.
4
[Fabry disease: data from four families].[法布里病：来自四个家族的数据]
Ned Tijdschr Geneeskd. 2000 Dec 9;144(50):2412-5.
5
[Myocardial disease in inherited disease].[遗传性疾病中的心肌病]
Nihon Rinsho. 2000 Jan;58(1):200-3.
6
Two novel mutations (L32P) and (G85N) among five different missense mutations in six Danish families with Fabry's disease.在六个患有法布里病的丹麦家族的五种不同错义突变中发现了两种新突变（L32P）和（G85N）。
Hum Mutat. 1995;5(3):277-8. doi: 10.1002/humu.1380050316.
7
[Alpha-galactosidase A deficiency--Fabry's disease].[α-半乳糖苷酶A缺乏症——法布里病]
Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):745-8.
8
Association of renal ectopia with Fabry's disease in 3 patients.3例肾异位与法布里病的关联
J Urol. 2009 Apr;181(4):1949-54. doi: 10.1016/j.juro.2008.11.091. Epub 2009 Feb 23.
9
Molecular genetic, biochemical, and clinical studies in three families with cardiac Fabry's disease.对三个患有心脏法布里病的家族进行的分子遗传学、生物化学和临床研究。
Am J Cardiol. 2001 Jan 1;87(1):71-5. doi: 10.1016/s0002-9149(00)01275-3.
10
Subclinical Fabry's disease occurring in the context of IgA nephropathy.IgA肾病背景下发生的亚临床法布里病。
Clin Nephrol. 1997 Feb;47(2):71-5.
Zotero 插件