• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Fabry's disease (angiokeratoma corporis diffusum): case report on a rare disease.

作者信息

Dempsey H, Hartley M W, Carroll J, Balint J, Miller R E, Frommeyer W B

出版信息

Ann Intern Med. 1965 Dec;63(6):1059-68. doi: 10.7326/0003-4819-63-6-1059.

DOI:10.7326/0003-4819-63-6-1059
PMID:5844564
Abstract
摘要

相似文献

1
Fabry's disease (angiokeratoma corporis diffusum): case report on a rare disease.
Ann Intern Med. 1965 Dec;63(6):1059-68. doi: 10.7326/0003-4819-63-6-1059.
2
Angiokeratoma corporis diffusum (Fabry's disease) with renal, ocular and possibly cardiac involvement.
Isr J Med Sci. 1970 Sep-Oct;6(5):641-5.
3
The renal lesion of angiokeratoma corporis diffusum (Fabry's disease): report of three cases including some electron microscopic findings.
Pathology. 1970 Jan;2(1):9-14. doi: 10.3109/00313027009077320.
4
Angiokeratoma corporis diffusum--Fabry's disease.弥漫性躯体血管角质瘤——法布里病。
Helv Med Acta. 1967 Dec;34(1):67-83.
5
Angiokeratoma corporis diffusum universale (Fabry's disease): a case with gross myocardial involvement.
Australas Ann Med. 1970 Feb;19(1):58-61. doi: 10.1111/imj.1970.19.1.58.
6
The renal lesion in angiokeratoma corporis diffusum (Fabry's disease).弥漫性躯体血管角质瘤（法布里病）中的肾脏病变。
Can Med Assoc J. 1963 Aug 3;89(5):206-13.
7
[Fabry's disease. General review apropos of a case].
Rev Lyon Med. 1969 Jan 30;18(2):39-47.
8
Genetic, biochemical and clinical investigations in angiokeratoma corporis diffusum (Fabry's disease).
Acta Neurol Scand. 1970;46(S43):256-8. doi: 10.1111/j.1600-0404.1970.tb02217.x.
9
[Fabry's disease (Angiokeratoma corporis diffusum universale). Phosphatides storage disease in two families].
Dtsch Med Wochenschr. 1966 Feb 11;91(6):241-5. doi: 10.1055/s-0028-1110552.
10
Angiokeratoma corporis diffusum (Fabry's diseases).
Dermatologica. 1974;148(1):48-9.

引用本文的文献

1
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy.法布里病中尿调节蛋白的异常表达和加工反映了肾小管细胞储存改变，且可通过酶替代疗法逆转。
J Inherit Metab Dis. 2008 Aug;31(4):508-17. doi: 10.1007/s10545-008-0900-3. Epub 2008 Jul 27.
2
Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy.伴有肢端肥大症和独特血管病变的法布里病的尸检诊断
Virchows Arch. 2007 Sep;451(3):721-7. doi: 10.1007/s00428-007-0456-x. Epub 2007 Jul 12.
3
Clinical and electron microscopic studies of a case of glycolipid lipoidosis (Fabry's disease).
一例糖脂类脂沉积症（法布里病）的临床及电子显微镜研究
J Clin Pathol. 1967 Jan;20(1):21-7. doi: 10.1136/jcp.20.1.21.
4
Gut lesions in Fabry's disease without a rash.无皮疹的法布里病肠道病变
Arch Dis Child. 1972 Feb;47(251):26-33. doi: 10.1136/adc.47.251.26.
5
Short P-R intervals and tachyarrhythmias in Fabry's disease.法布里病中的短P-R间期和快速性心律失常
Postgrad Med J. 1986 Oct;62(732):969. doi: 10.1136/pgmj.62.732.969.