• 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

The Chediak-Higashi-Steinbrinck syndrome. Presentation of three cases with features resembling spinocerebellar degeneration.

作者信息

Sheramata W, Kott H S, Cyr D P

出版信息

Arch Neurol. 1971 Oct;25(4):289-94. doi: 10.1001/archneur.1971.00490040015001.

DOI:10.1001/archneur.1971.00490040015001
PMID:5156632
Abstract
摘要

相似文献

1
The Chediak-Higashi-Steinbrinck syndrome. Presentation of three cases with features resembling spinocerebellar degeneration.切迪阿克-东综合征。三例具有类似脊髓小脑变性特征的病例报告。
Arch Neurol. 1971 Oct;25(4):289-94. doi: 10.1001/archneur.1971.00490040015001.
2
Chédiak-Higashi syndrome. Neurologic appearance.切迪阿克-东综合征。神经系统表现。
Arch Neurol. 1984 Sep;41(9):1001-2. doi: 10.1001/archneur.1984.04050200111031.
3
A case report of Chediak-Higashi syndrome complicated with systemic amyloidosis and olivo-cerebellar degeneration.1例伴有系统性淀粉样变性和橄榄小脑变性的切迪阿克-希加希综合征病例报告
Pathol Res Pract. 1989 Aug;185(2):231-7. doi: 10.1016/S0344-0338(89)80257-2.
4
Chediak-Higashi syndrome: ocular findings.
J Pediatr Ophthalmol Strabismus. 1980 Mar-Apr;17(2):68-74. doi: 10.3928/0191-3913-19800301-04.
5
[Progressive nuclear ophthalmoplegia and hereditary spinal cerebellar degeneration. Study of 1 anatomo-clinical case].[进行性核上性眼肌麻痹与遗传性脊髓小脑变性。1例解剖临床病例研究]
Rev Neurol (Paris). 1967 May;116(5):383-400.
6
[Two adult siblings with Chédiak-Higashi syndrome presenting as hyperpigmentation of the skin and the iris].[两名患有切-希二氏综合征的成年兄弟姐妹，表现为皮肤和虹膜色素沉着过度]
Rinsho Shinkeigaku. 1999 Jul;39(7):735-8.
7
[Case of adrenoleukodystrophy presenting as spinocerebellar degeneration].[以脊髓小脑变性为表现的肾上腺脑白质营养不良病例]
Rinsho Shinkeigaku. 1983 Aug;23(8):678-82.
8
Adult Chédiak-Higashi syndrome presenting as parkinsonism and dementia.表现为帕金森症和痴呆的成人柴-希二氏综合征
Acta Neurol Scand. 1994 Mar;89(3):175-83. doi: 10.1111/j.1600-0404.1994.tb01657.x.
9
Motor neuronopathy in Chediak-Higashi syndrome.
J Neurol Sci. 2014 Sep 15;344(1-2):203-7. doi: 10.1016/j.jns.2014.06.026. Epub 2014 Jun 21.
10
Spinocerebellar degeneration with parkinsonian features: a clinical and pathological report.伴有帕金森特征的脊髓小脑变性：一份临床与病理报告
Ann Neurol. 1981 Jan;9(1):87-9. doi: 10.1002/ana.410090118.

引用本文的文献

1
Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.免疫缺陷病的神经系统并发症：临床谱、病理生理机制及治疗策略的范围综述
Clin Rev Allergy Immunol. 2025 Jul 18;68(1):67. doi: 10.1007/s12016-025-09078-7.
2
Mouse models and strain-dependency of Chédiak-Higashi syndrome-associated neurologic dysfunction.Chédiak-Higashi 综合征相关神经功能障碍的小鼠模型和品系依赖性。
Sci Rep. 2019 May 1;9(1):6752. doi: 10.1038/s41598-019-42159-0.
3
Parkinsonism and Other Movement Disorders Associated with Chediak-Higashi Syndrome: Case Report and Systematic Literature Review.
帕金森综合征及与切-东综合征相关的其他运动障碍：病例报告及系统文献综述
Mov Disord Clin Pract. 2015 Jan 14;2(1):93-98. doi: 10.1002/mdc3.12111. eCollection 2015 Mar.
4
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.非典型 Chédiak-Higashi 综合征伴衰减表型：三个成年同患一种新型 LYST 缺失的同胞，伴有神经退行性疾病。
Orphanet J Rare Dis. 2013 Mar 22;8:46. doi: 10.1186/1750-1172-8-46.
5
Drosophila mauve mutants reveal a role of LYST homologs late in the maturation of phagosomes and autophagosomes.果蝇洋红突变体揭示了 LYST 同源物在吞噬体和自噬体成熟后期的作用。
Traffic. 2012 Dec;13(12):1680-92. doi: 10.1111/tra.12005. Epub 2012 Sep 20.
6
[Chediak-Higashi syndrome].[切-东综合征]
Nervenarzt. 2006 Feb;77(2):148, 150-2, 155-7. doi: 10.1007/s00115-005-1989-3.
7
The Chédiak-Higashi syndrome: CT and MR findings.切-东综合征：CT与磁共振成像表现
Pediatr Radiol. 1994;24(4):266-7. doi: 10.1007/BF02015453.
8
Peripheral neuropathy in the Chediak-Higashi syndrome.
Acta Neuropathol. 1991;81(3):354-8. doi: 10.1007/BF00305881.
9
Chediak-Higashi syndrome.切迪阿克-希加综合征
Proc R Soc Med. 1975 May;68(5):299-300. doi: 10.1177/003591577506800515.