• 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

法布里病：一种多学科疾病。

Fabry's disease: a multidisciplinary disorder.

作者信息

Peters F P, Sommer A, Vermeulen A, Cheriex E C, Kho T L

机构信息

Department of Internal Medicine, University Hospital Maastricht, The Netherlands.

出版信息

Postgrad Med J. 1997 Nov;73(865):710-2. doi: 10.1136/pgmj.73.865.710.

DOI:10.1136/pgmj.73.865.710
PMID:9519183
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2431567/
Abstract

Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic examination. Treatment is symptomatic. We want to stress the multidisciplinary collaboration necessary to deal with this condition, in order to prevent acceleration of symptoms.

摘要

法布里病是一种X连锁遗传性疾病，由于α-半乳糖苷酶A缺乏，导致一种糖脂（半乳糖基半乳糖基葡萄糖神经酰胺）蓄积。诊断可通过皮肤活检的组织病理学检查、白细胞中α-半乳糖苷酶活性降低以及基因检测来进行。治疗为对症治疗。我们想强调应对这种疾病需要多学科协作，以防止症状加重。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b366/2431567/c275d37fabb8/postmedj00155-0025-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b366/2431567/10e737ff6fc1/postmedj00155-0025-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b366/2431567/5ab3c545055e/postmedj00155-0025-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b366/2431567/c275d37fabb8/postmedj00155-0025-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b366/2431567/10e737ff6fc1/postmedj00155-0025-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b366/2431567/5ab3c545055e/postmedj00155-0025-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b366/2431567/c275d37fabb8/postmedj00155-0025-c.jpg

相似文献

1
Fabry's disease: a multidisciplinary disorder.法布里病：一种多学科疾病。
Postgrad Med J. 1997 Nov;73(865):710-2. doi: 10.1136/pgmj.73.865.710.
2
Neurological manifestations in Fabry's disease.法布里病的神经学表现。
Nat Clin Pract Neurol. 2007 Feb;3(2):95-106. doi: 10.1038/ncpneuro0407.
3
Fabry's disease.法布里病
Rom J Intern Med. 2006;44(4):455-64.
4
Cardiopulmonary involvement in Fabry's disease.法布里病的心肺受累情况。
Acta Cardiol. 2010 Apr;65(2):185-92. doi: 10.2143/AC.65.2.2047052.
5
A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves.一例伴有短PR间期和巨大负向T波的杂合子法布里病。
Br Heart J. 1987 Mar;57(3):296-9. doi: 10.1136/hrt.57.3.296.
6
[Cardiac involvement in Fabry's disease - typical disease course and diagnostic problems].
Kardiol Pol. 2011;69(4):364-6.
7
[Ocular findings in Fabry's disease].[法布里病的眼部表现]
Acta Med Croatica. 2006;60(2):163-6.
8
Fabry's disease--a comprehensive review on pathogenesis, diagnosis and treatment.法布里病——关于发病机制、诊断与治疗的全面综述
J Pak Med Assoc. 2014 Feb;64(2):189-94.
9
Fabry's disease--a case report and review of literatures reported in Korea.法布里病——1例病例报告及韩国文献综述
Yonsei Med J. 1998 Feb;39(1):67-72. doi: 10.3349/ymj.1998.39.1.67.
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.

引用本文的文献

1
Fabry's Disease: The Utility of a Multidisciplinary Screening Approach.法布里病：多学科筛查方法的效用
Life (Basel). 2022 Apr 22;12(5):623. doi: 10.3390/life12050623.
2
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.化学伴侣对韩国法布里病患者α-半乳糖苷酶A基因突变的影响。
Exp Mol Med. 2009 Jan 31;41(1):1-7. doi: 10.3858/emm.2009.41.1.001.
3
Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease.酶替代疗法对韩国法布里病患者的短期疗效

本文引用的文献

1
Generation of one set of murine monoclonal antibodies specific for globo-series glycolipids: evidence for differential distribution of the glycolipids in rat small intestine.一组针对球系列糖脂的鼠源单克隆抗体的产生：糖脂在大鼠小肠中差异分布的证据。
Arch Biochem Biophys. 1994 Apr;310(1):89-96. doi: 10.1006/abbi.1994.1144.
2
Punctate and linear angiectases. Anderson-Fabry disease (angiokeratoma corporis diffusum).点状和线状血管扩张。安德森-法布里病（弥漫性躯体血管角质瘤）。
Arch Dermatol. 1995 Jan;131(1):82-3, 85-6. doi: 10.1001/archderm.131.1.82.
3
Successful treatment of painful crises of Fabry disease with low dose morphine.
J Korean Med Sci. 2008 Apr;23(2):243-50. doi: 10.3346/jkms.2008.23.2.243.
4
Monitoring enzyme replacement therapy in Fabry disease--role of urine globotriaosylceramide.法布里病中酶替代疗法的监测——尿球三糖神经酰胺的作用
J Inherit Metab Dis. 2005;28(1):21-33. doi: 10.1007/s10545-005-4415-x.
5
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors.遗传咨询实践中的法布里病：美国国家遗传咨询师协会的建议
J Genet Couns. 2002 Apr;11(2):121-46. doi: 10.1023/a:1014545521753.
低剂量吗啡成功治疗法布里病的疼痛危机。
Pediatr Neurol. 1995 Apr;12(3):250-1. doi: 10.1016/0887-8994(95)00007-3.
4
[Fabry disease, an ophthalmo-neuro-dermato-cardio-nephrologic problem].[法布里病，一种眼-神经-皮肤-心脏-肾脏疾病]
Klin Monbl Augenheilkd. 1995 May;206(5):369-70. doi: 10.1055/s-2008-1035465.
5
An atypical variant of Fabry's disease in men with left ventricular hypertrophy.患有左心室肥厚的男性中的一种非典型法布里病变体。
N Engl J Med. 1995 Aug 3;333(5):288-93. doi: 10.1056/NEJM199508033330504.
6
Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease.以无菌性脑膜反应为临床起病表现的法布里病相关头痛。
Headache. 1995 Sep;35(8):498-501. doi: 10.1111/j.1526-4610.1995.hed3508498.x.
7
A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody.一名女性杂合子法布里病患者，通过单克隆抗体检测到肾组织中有三己糖神经酰胺蓄积。
Am J Kidney Dis. 1995 Dec;26(6):952-5. doi: 10.1016/0272-6386(95)90061-6.
8
Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation.成功肾移植十一年后，法布里病在同种异体肾移植中复发。
Transplantation. 1991 Apr;51(4):759-62. doi: 10.1097/00007890-199104000-00004.