• 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-Anderson's disease].

作者信息

Andratschke C

出版信息

Fortschr Med. 1975 Dec 4;93(34):1697-702.

PMID:811519
Abstract

Fabry's disease was originally considered a skin disease. Mainly affected are epidermis, kidney, heart and vessels. Newer studies show that the disease is an inherited defect of metabolism with abnormal accumulation of "Zeramid-Tri- or-Dihexoside" in different organs. The main clinical symptoms are epidermal changes, cornea verticillata and kidney changes. The diagnosis is verified by kidney biopsy or biochemical analysis of blood and urine. The activity of alpha-galactosidase in the blood is reduced, the secretion of Zeramid-Trihexoside in urine is increased. Causal therapy still does not exist, different methodes of treatment are discussed but still in the experimental stage. A case report is given.

摘要

相似文献

1
[Fabry-Anderson's disease].
Fortschr Med. 1975 Dec 4;93(34):1697-702.
2
Anderson-Fabry disease.安德森-法布里病
Br J Dermatol. 1973 Jan;88(1):1-23.
3
[Fabry disease: systemic deposition of a glycolipid].
Harefuah. 1994 Sep;127(5-6):157-60, 215.
4
Diagnostic value of kidney biopsy in heterozygous Fabry's disease.肾活检在杂合子型法布里病中的诊断价值
Arch Pathol Lab Med. 1985 Jan;109(1):85-8.
5
On the diagnosis of Fabry's disease.关于法布里病的诊断
Acta Derm Venereol. 1975;55(5):363-6.
6
Absence of cross-reactive antigen in Fabry's disease.
N Engl J Med. 1973 Sep 27;289(13):694-5. doi: 10.1056/NEJM197309272891314.
7
Letter: Enhancement of enzymatic activity in Fabry's disease.信件：法布里病中酶活性的增强。
N Engl J Med. 1974 Mar 14;290(11):629-30. doi: 10.1056/NEJM197403142901117.
8
Angiokeratoma corporis diffusum (Fabry's diseases).
Dermatologica. 1974;148(1):48-9.
9
Presence of alpha-anomeric glycosidic configuration in the glycolipids accumulated in kidney with Fabry's disease.
J Biochem. 1971 Mar;69(3):625-7.
10
Fabry's disease: general clinical aspects.
Arch Belg Dermatol Syphiligr. 1972 Jul-Sep;28(3):239-43.