• 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

Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.

作者信息

Clarke C E, Alger S, Preece M A, Burdon M A, Chavda S, Denis S, Ferdinandusse S, Wanders R J A

机构信息

Department of Neurology, City Hospital, Dudley Road, Birmingham B18 7QH, UK.

出版信息

Neurology. 2004 Jul 13;63(1):188-9. doi: 10.1212/01.wnl.0000132841.81250.b7.

DOI:10.1212/01.wnl.0000132841.81250.b7
PMID:15249642
Abstract
摘要

相似文献

1
Tremor and deep white matter changes in alpha-methylacyl-CoA racemase deficiency.α-甲基酰基辅酶A消旋酶缺乏症中的震颤和深部白质改变。
Neurology. 2004 Jul 13;63(1):188-9. doi: 10.1212/01.wnl.0000132841.81250.b7.
2
A new defect of peroxisomal function involving pristanic acid: a case report.一种涉及降植烷酸的过氧化物酶体功能新缺陷:病例报告
J Neurol Neurosurg Psychiatry. 2002 Mar;72(3):396-9. doi: 10.1136/jnnp.72.3.396.
3
Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.患有不同过氧化物酶体疾病患者的过氧化物酶体支链脂肪酸α-和β-氧化系统的立体化学
J Lipid Res. 2002 Mar;43(3):438-44.
4
Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.过氧化物酶体α-甲基酰基辅酶A消旋酶缺乏症中胆甾烷二羟酸和三羟酸非对映异构体的血浆分析
J Lipid Res. 2001 Jan;42(1):137-41.
5
Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency.由于过氧化物酶体α-甲基酰基辅酶A消旋酶缺乏导致的复发性横纹肌溶解症。
Neurology. 2010 Oct 5;75(14):1300-2. doi: 10.1212/WNL.0b013e3181f612a5.
6
Fibroblast studies documenting a case of peroxisomal 2-methylacyl-CoA racemase deficiency: possible link between racemase deficiency and malabsorption and vitamin K deficiency.成纤维细胞研究记录了一例过氧化物酶体2-甲基酰基辅酶A消旋酶缺乏症病例:消旋酶缺乏与吸收不良及维生素K缺乏之间的可能联系。
Eur J Clin Invest. 2001 Aug;31(8):714-22. doi: 10.1046/j.1365-2362.2001.00877.x.
7
Relapsing encephalopathy in a patient with alpha-methylacyl-CoA racemase deficiency.一名患有α-甲基酰基辅酶A消旋酶缺乏症患者的复发性脑病
J Neurol Neurosurg Psychiatry. 2008 Apr;79(4):448-50. doi: 10.1136/jnnp.2007.129478. Epub 2007 Nov 21.
8
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency.一例成年发病的 α-甲基酰基辅酶 A 消旋酶缺乏症。
J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S349-53. doi: 10.1007/s10545-010-9183-6. Epub 2010 Sep 4.
9
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.重新定义α-甲基酰基辅酶 A 消旋酶(AMACR)缺乏症的表型。
Orphanet J Rare Dis. 2024 Sep 23;19(1):350. doi: 10.1186/s13023-024-03358-9.
10
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.MRI 特征分析诊断的成人发病的α-甲基酰基辅酶 A 消旋酶缺乏症,通过外显子组测序。
Orphanet J Rare Dis. 2013 Jan 3;8:1. doi: 10.1186/1750-1172-8-1.

引用本文的文献

1
AMACR is a highly sensitive and specific immunohistochemical marker for diagnosing prostate cancer on biopsy: a systematic review and meta-analysis.α-甲基酰基辅酶A消旋酶(AMACR)是用于活检诊断前列腺癌的一种高度敏感且特异的免疫组化标志物:一项系统评价和荟萃分析。
J Pathol Transl Med. 2025 Jul;59(4):235-248. doi: 10.4132/jptm.2025.04.16. Epub 2025 Jul 3.
2
Variable clinical phenotypes of alpha-methylacyl-CoA racemase deficiency: Report of four cases and review of the literature.α-甲基酰基辅酶A消旋酶缺乏症的可变临床表型:4例报告及文献复习
JIMD Rep. 2024 Jul 11;65(5):305-312. doi: 10.1002/jmd2.12437. eCollection 2024 Sep.
3
Redefining the phenotype of alpha-methylacyl-CoA racemase (AMACR) deficiency.
重新定义α-甲基酰基辅酶 A 消旋酶(AMACR)缺乏症的表型。
Orphanet J Rare Dis. 2024 Sep 23;19(1):350. doi: 10.1186/s13023-024-03358-9.
4
α-Methylacyl-CoA Racemase Deficiency in a Patient with Ataxia, Spasticity, and Segmental Dystonia.一名患有共济失调、痉挛和节段性肌张力障碍患者的α-甲基酰基辅酶A消旋酶缺乏症
Mov Disord Clin Pract. 2024 Nov;11(11):1458-1461. doi: 10.1002/mdc3.14176. Epub 2024 Aug 12.
5
Autoantibody Positivity in Two Bahraini Siblings With a Novel Alpha-Methylacyl-CoA Racemase Mutation.两名携带新型α-甲基酰基辅酶A消旋酶突变的巴林兄弟姐妹自身抗体呈阳性。
Cureus. 2023 Jul 11;15(7):e41720. doi: 10.7759/cureus.41720. eCollection 2023 Jul.
6
Alpha-methyl acetyl-coA racemase deficiency. Magnetic resonance imaging findings of three patients with encephalopathy, epilepsy, and stroke-like episodes.α-甲基乙酰辅酶 A 消旋酶缺乏症。3 例脑病、癫痫和中风样发作患者的磁共振成像表现。
Neuroradiol J. 2024 Jun;37(3):351-356. doi: 10.1177/19714009231187342. Epub 2023 Jul 15.
7
Late onset AMACR deficiency with metabolic stroke-like episodes and seizures.迟发性α-甲基酰基辅酶A消旋酶缺乏症伴代谢性类中风发作和癫痫。
BMJ Case Rep. 2022 Apr 15;15(4):e247964. doi: 10.1136/bcr-2021-247964.
8
Asymptomatic retinal dysfunction in alpha-methylacyl-CoA racemase deficiency.α-甲基戊二酰辅酶 A 差向异构酶缺乏症的无症状性视网膜功能障碍。
Mol Vis. 2021 Jul 1;27:396-402. eCollection 2021.
9
Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity.过氧化物酶体疾病及其小鼠模型表明过氧化物酶体对视网膜完整性至关重要。
Int J Mol Sci. 2021 Apr 15;22(8):4101. doi: 10.3390/ijms22084101.
10
Current Knowledge on the Function of α-Methyl Acyl-CoA Racemase in Human Diseases.关于α-甲基酰基辅酶A消旋酶在人类疾病中功能的当前知识
Front Mol Biosci. 2020 Jul 14;7:153. doi: 10.3389/fmolb.2020.00153. eCollection 2020.