• 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

Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.

作者信息

Barp Andrea, Bellance Rémi, Malfatti Edoardo, Rigal Odile, Acquaviva-Bourdain Cécile, Laforet Pascal

机构信息

From the Neurology Clinic, Gorizia Hospital, Gorizia, Italy.

Neuromuscular Reference Center, CHU Fort-de-France, Fort de France.

出版信息

J Clin Rheumatol. 2020 Aug;26(5):e125-e127. doi: 10.1097/RHU.0000000000001000.

DOI:10.1097/RHU.0000000000001000
PMID:30801335
Abstract
摘要

相似文献

1
Late Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) Myopathy Misdiagnosed as Polymyositis.迟发性多种酰基辅酶A脱氢酶缺乏症(MADD)肌病被误诊为多发性肌炎。
J Clin Rheumatol. 2020 Aug;26(5):e125-e127. doi: 10.1097/RHU.0000000000001000.
2
Late-onset MADD in Yemen caused by a novel ETFDH mutation misdiagnosed as ADEM.也门迟发性多种酰基辅酶A脱氢酶缺乏症由一种新的电子转移黄素蛋白脱氢酶(ETFDH)突变引起,曾被误诊为急性播散性脑脊髓炎。
Mult Scler Relat Disord. 2021 Feb;48:102689. doi: 10.1016/j.msard.2020.102689. Epub 2020 Dec 13.
3
Subacute myopathy in a mature patient due to multiple acyl-coenzyme A dehydrogenase deficiency.多种酰基辅酶 A 脱氢酶缺乏症致成熟患者亚急性肌病。
Muscle Nerve. 2011 Mar;43(3):444-6. doi: 10.1002/mus.21881.
4
Features and diagnostic value of body composition in patients with late-onset multiple acyl-CoA dehydrogenase deficiency.迟发性多发性酰基辅酶 A 脱氢酶缺乏症患者的身体成分特征及其诊断价值。
Acta Neurol Belg. 2022 Aug;122(4):969-977. doi: 10.1007/s13760-022-01974-5. Epub 2022 May 26.
5
Clinical, pathological and genetic features and follow-up of 110 patients with late-onset MADD: a single-center retrospective study.110 例迟发性 MADD 患者的临床、病理和遗传学特征及随访:一项单中心回顾性研究。
Hum Mol Genet. 2022 Mar 31;31(7):1115-1129. doi: 10.1093/hmg/ddab308.
6
Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.肌病伴 MTCYB 突变,类似多发性酰基辅酶 A 脱氢酶缺乏症。
Rev Neurol (Paris). 2018 Dec;174(10):731-735. doi: 10.1016/j.neurol.2018.03.014. Epub 2018 Oct 11.
7
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.老年人携带者中多种酰基辅酶 A 脱氢酶缺乏症。
J Neurol. 2020 May;267(5):1414-1419. doi: 10.1007/s00415-020-09729-z. Epub 2020 Jan 29.
8
Significant clinical heterogeneity with similar ETFDH genotype in three Chinese patients with late-onset multiple acyl-CoA dehydrogenase deficiency.三名中国晚发型多种酰基辅酶A脱氢酶缺乏症患者中具有相似ETFDH基因型的显著临床异质性。
Neurol Sci. 2016 Jul;37(7):1099-105. doi: 10.1007/s10072-016-2549-2. Epub 2016 Mar 21.
9
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan.一篇关于迟发性和极迟发性多发性酰基辅酶 A 脱氢酶缺乏症的系统回顾:来自台湾的队列分析和患者报告。
Neuromuscul Disord. 2021 Mar;31(3):218-225. doi: 10.1016/j.nmd.2021.01.006. Epub 2021 Jan 13.
10
[Consensus on screening, diagnosis and treatment of multiple acyl-CoA dehydrogenase deficiency].[关于多种酰基辅酶A脱氢酶缺乏症筛查、诊断和治疗的共识]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 May 10;38(5):414-418. doi: 10.3760/cma.j.cn511374-20200829-00630.

引用本文的文献

1
Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review.老年患者遗传性代谢疾病的诊断:一项系统文献综述。
J Inherit Metab Dis. 2025 May;48(3):e70038. doi: 10.1002/jimd.70038.
2
Metabolic Myopathies in the Era of Next-Generation Sequencing.代谢性肌病的下一代测序时代。
Genes (Basel). 2023 Apr 22;14(5):954. doi: 10.3390/genes14050954.