Suppr超能文献

Fabry disease: the many faces of a single disorder.

作者信息

Torra Roser, Ortíz Alberto

机构信息

Inherited Renal Diseases, Fundacio Puigvert , Universidad Autónoma de Barcelona , Barcelona , Spain.

Renal Unit , IIS-Fundación Jiménez Díaz Universidad Autónoma de Madrid, FRIAT , Madrid , Spain.

出版信息

Clin Kidney J. 2012 Oct;5(5):379-82. doi: 10.1093/ckj/sfs124.

Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ae71/4432429/c2a949e109a5/sfs12401.jpg

相似文献

1
Fabry disease: the many faces of a single disorder.
Clin Kidney J. 2012 Oct;5(5):379-82. doi: 10.1093/ckj/sfs124.
2
Fabry disease.
Pharmacol Ther. 2009 Apr;122(1):65-77. doi: 10.1016/j.pharmthera.2009.01.003. Epub 2009 Feb 8.
3
Changes in Ionic Conductance Signature of Nociceptive Neurons Underlying Fabry Disease Phenotype.
Front Neurol. 2017 Jul 14;8:335. doi: 10.3389/fneur.2017.00335. eCollection 2017.
4
Fabry disease model: a rational approach to the management of Fabry disease.
Clin Ther. 2007;29 Suppl A:S2-5. doi: 10.1016/s0149-2918(07)80115-9.
5
Anderson-Fabry disease: developments in diagnosis and treatment.
Int J Clin Pharmacol Ther. 2009;47 Suppl 1:S66-74. doi: 10.5414/cpp47066.
6
Fabry Disease: A Disorder of Childhood Onset.
Pediatr Neurol. 2016 Nov;64:10-20. doi: 10.1016/j.pediatrneurol.2016.07.001. Epub 2016 Jul 29.
7
8
Fabry disease and the heart: an overview of the natural history and the effect of enzyme replacement therapy.
Acta Paediatr Suppl. 2005 Mar;94(447):11-4; discussion 9-10. doi: 10.1111/j.1651-2227.2005.tb02103.x.
9
The Prevalence of Fabry Disease Among Young Cryptogenic Stroke Patients.
Cureus. 2020 Jul 27;12(7):e9415. doi: 10.7759/cureus.9415.
10
Gene therapy for Fabry disease.
J Inherit Metab Dis. 2001;24 Suppl 2:25-41; discussion 11-2. doi: 10.1023/a:1012455421014.

本文引用的文献

1
3
A renal variant of Fabry disease: A case with a novel Gal A hemizygote mutation.
J Nephropathol. 2012 Oct;1(3):194-7. doi: 10.5812/nephropathol.8123. Epub 2012 Oct 1.
5
Beyond proteinuria: VDR activation reduces renal inflammation in experimental diabetic nephropathy.
Am J Physiol Renal Physiol. 2012 Mar 15;302(6):F647-57. doi: 10.1152/ajprenal.00090.2011. Epub 2011 Dec 14.
6
Interdisciplinary approach towards female patients with Fabry disease.
Eur J Clin Invest. 2012 Apr;42(4):455-62. doi: 10.1111/j.1365-2362.2011.02614.x. Epub 2011 Nov 3.
7
Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.
Nephrol Dial Transplant. 2012 Mar;27(3):1042-9. doi: 10.1093/ndt/gfr420. Epub 2011 Jul 29.
8
Response of women with Fabry disease to enzyme replacement therapy: comparison with men, using data from FOS--the Fabry Outcome Survey.
Mol Genet Metab. 2011 Jul;103(3):207-14. doi: 10.1016/j.ymgme.2011.03.022. Epub 2011 Mar 31.
9
Progressive podocyte injury and globotriaosylceramide (GL-3) accumulation in young patients with Fabry disease.
Kidney Int. 2011 Mar;79(6):663-670. doi: 10.1038/ki.2010.484. Epub 2010 Dec 15.
10
Fabry disease.
Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验