• 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

通过腋窝皮肤活检对一名Lafora病早期病例进行诊断。

Diagnosis by axilla skin biopsy in an early case of Lafora's disease.

作者信息

Rubio G, Garcia Guijo C, Mallada J J, Cabello A, Garcia Merino A

机构信息

Department of Neurology, Clínica Puerta de Hierro, Madrid, Spain.

出版信息

J Neurol Neurosurg Psychiatry. 1992 Nov;55(11):1084-5. doi: 10.1136/jnnp.55.11.1084.

DOI:10.1136/jnnp.55.11.1084
PMID:1469407
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1015298/
Abstract

Myoclonus, seizures and progressive dementia are the main clinical features in Lafora's disease. This is the first reported case in which the diagnosis has been made by axillary skin biopsy in a patient with myoclonus but no other neurological symptoms.

摘要

肌阵挛、癫痫发作和进行性痴呆是拉福拉病的主要临床特征。这是首例通过腋窝皮肤活检对仅有肌阵挛而无其他神经症状的患者做出诊断的报告病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef7c/1015298/b58d788a902a/jnnpsyc00496-0103-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef7c/1015298/ffddbe350a4d/jnnpsyc00496-0103-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef7c/1015298/b58d788a902a/jnnpsyc00496-0103-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef7c/1015298/ffddbe350a4d/jnnpsyc00496-0103-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef7c/1015298/b58d788a902a/jnnpsyc00496-0103-b.jpg

相似文献

1
Diagnosis by axilla skin biopsy in an early case of Lafora's disease.通过腋窝皮肤活检对一名Lafora病早期病例进行诊断。
J Neurol Neurosurg Psychiatry. 1992 Nov;55(11):1084-5. doi: 10.1136/jnnp.55.11.1084.
2
A case of Lafora's disease: diagnosis by skin biopsy.一例拉福拉病：通过皮肤活检进行诊断。
Acta Neurol Belg. 1993;93(2):97-8.
3
Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease.腋窝皮肤活检：诊断拉福拉病的可靠检测方法。
Ann Neurol. 1987 Jun;21(6):599-601. doi: 10.1002/ana.410210613.
4
[Axilla skin biopsy in the diagnosis of Lafora's disease].[腋窝皮肤活检在拉福拉病诊断中的应用]
Neurologia. 1994 May;9(5):188-90.
5
[Diagnostic role of axillary skin biopsy in Lafora's disease].[腋窝皮肤活检在拉福拉病中的诊断作用]
Zhonghua Shen Jing Jing Shen Ke Za Zhi. 1991 Dec;24(6):346-8, 383.
6
Diagnosis of Lafora's disease in apocrine sweat glands of the axilla.腋窝顶泌汗腺中拉福拉病的诊断。
Am J Dermatopathol. 1991 Aug;13(4):410-3. doi: 10.1097/00000372-199108000-00013.
7
Lafora's disease. The role of skin biopsy.拉福拉病。皮肤活检的作用。
Arch Dermatol. 1987 Dec;123(12):1667-9. doi: 10.1001/archderm.123.12.1667.
8
[Lafora disease. Report of a new case diagnosed by biopsy from the axillary skin].[拉福拉病。一例经腋窝皮肤活检确诊的新病例报告]
An Esp Pediatr. 1993 Mar;38(3):258-60.
9
Adult polyglucosan body disease: the diagnostic value of axilla skin biopsy.成人多聚葡萄糖体病：腋窝皮肤活检的诊断价值
Ann Neurol. 1991 Apr;29(4):448-51. doi: 10.1002/ana.410290420.
10
Diagnosis by axilla skin biopsy in an early case of Lafora's disease.通过腋窝皮肤活检对一例Lafora病早期病例进行诊断。
J Neurol Neurosurg Psychiatry. 1993 Dec;56(12):1339-40. doi: 10.1136/jnnp.56.12.1339-b.

引用本文的文献

1
A Case of Lafora Disease Diagnosed by Axillary Skin Biopsy.腋部皮肤活检诊断拉福拉病 1 例
Turk Patoloji Derg. 2021;37(3):264-265. doi: 10.5146/tjpath.2021.01522.
2
Lafora Disease: Report of a Rare Entity.拉福拉病：一种罕见病症的报告。
Cureus. 2020 Jan 28;12(1):e6793. doi: 10.7759/cureus.6793.
3
Diagnosis of Lafora Disease by Skin Biopsy.通过皮肤活检诊断拉福拉病

本文引用的文献

1
Sweat gland duct cells in Lafora disease: diagnosis by skin biopsy.拉福拉病中的汗腺导管细胞：通过皮肤活检进行诊断
Neurology. 1981 Dec;31(12):1564-8. doi: 10.1212/wnl.31.12.1564.
2
[Early diagnosis of Lafora disease. Significance of paroxysmal visual manifestations and contribution of skin biopsy].
Rev Neurol (Paris). 1983;139(2):115-24.
3
Visual ictal phenomena in a case of Lafora disease proven by skin biopsy.经皮肤活检证实的Lafora病病例中的视觉发作现象。
Epilepsia. 1983 Apr;24(2):214-8. doi: 10.1111/j.1528-1157.1983.tb04881.x.
J Clin Diagn Res. 2017 Sep;11(9):EJ01-EJ02. doi: 10.7860/JCDR/2017/28570.10552. Epub 2017 Sep 1.
4
Diagnosis by axilla skin biopsy in an early case of Lafora's disease.通过腋窝皮肤活检对一例Lafora病早期病例进行诊断。
J Neurol Neurosurg Psychiatry. 1993 Dec;56(12):1339-40. doi: 10.1136/jnnp.56.12.1339-b.
4
Lafora disease: diagnosis by liver biopsy.拉福拉病：通过肝活检进行诊断。
Ann Neurol. 1980 Oct;8(4):409-15. doi: 10.1002/ana.410080412.
5
A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal ageing.一种独特形式的成人多聚葡萄糖体病，中枢和外周神经突起及星形胶质细胞广泛受累：四例报告及对多聚葡萄糖体在其他病症（如拉福拉病和正常衰老）中出现情况的综述
Brain. 1980 Jun;103(2):315-36. doi: 10.1093/brain/103.2.315.
6
Studies in myoclonus epilepsy. (Lafora body form). IV. Skeletal muscle abnormalities.肌阵挛性癫痫研究。（拉福拉体形式）。IV. 骨骼肌异常。
Arch Neurol. 1974 Jun;30(6):466-74. doi: 10.1001/archneur.1974.00490360042009.
7
Biopsy findings (cerebral cortex, muscle, skin) in Lafora disease.拉福拉病的活检结果（大脑皮层、肌肉、皮肤）
Acta Neurol (Napoli). 1987 Apr;9(2):81-94.
8
Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease.腋窝皮肤活检：诊断拉福拉病的可靠检测方法。
Ann Neurol. 1987 Jun;21(6):599-601. doi: 10.1002/ana.410210613.
9
Lafora's disease. Comparison of inclusion bodies in skin and in brain.拉福拉病。皮肤和大脑中包涵体的比较。
Arch Neurol. 1986 Mar;43(3):296-9. doi: 10.1001/archneur.1986.00520030082023.
10
Lafora's disease. The role of skin biopsy.拉福拉病。皮肤活检的作用。
Arch Dermatol. 1987 Dec;123(12):1667-9. doi: 10.1001/archderm.123.12.1667.