• 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

Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.

作者信息

Stanley C A, Hale D E, Berry G T, Deleeuw S, Boxer J, Bonnefont J P

机构信息

Endocrine/Diabetes Division, Children's Hospital of Philadelphia, PA 19104.

出版信息

N Engl J Med. 1992 Jul 2;327(1):19-23. doi: 10.1056/NEJM199207023270104.

DOI:10.1056/NEJM199207023270104
PMID:1598097
Abstract
摘要

相似文献

1
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.简短报告：线粒体内膜中肉碱-酰基肉碱转位酶缺乏
N Engl J Med. 1992 Jul 2;327(1):19-23. doi: 10.1056/NEJM199207023270104.
2
[Mitochondrial carnitine acylcarnitine translocase].[线粒体肉碱脂酰肉碱转位酶]
Nihon Rinsho. 2002 Apr;60 Suppl 4:85-7.
3
[Carnitine acylcarnitine translocase deficiency].[肉碱脂酰肉碱转位酶缺乏症]
Nihon Rinsho. 2002 Apr;60 Suppl 4:714-6.
4
Fatty acid beta-oxidation in peroxisomes and mitochondria: the first, unequivocal evidence for the involvement of carnitine in shuttling propionyl-CoA from peroxisomes to mitochondria.过氧化物酶体和线粒体中的脂肪酸β-氧化：肉碱参与将丙酰辅酶A从过氧化物酶体转运至线粒体的首个明确证据。
Biochem Biophys Res Commun. 1995 Aug 24;213(3):1035-41. doi: 10.1006/bbrc.1995.2232.
5
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.伴有严重低血糖和房室传导阻滞的肉碱-酰基肉碱转位酶缺乏症。通透化成纤维细胞中的转位酶检测。
J Clin Invest. 1993 Mar;91(3):1247-52. doi: 10.1172/JCI116288.
6
Evidence for a short-chain carnitine-acylcarnitine translocase in mitochondria specifically related to the metabolism of branched-chain amino acids.线粒体中存在一种与支链氨基酸代谢特别相关的短链肉碱-酰基肉碱转位酶的证据。
Mol Genet Metab. 2000 Jan;69(1):69-75. doi: 10.1006/mgme.1999.2950.
7
Impaired peroxisomal fatty acid oxidation in human skin fibroblasts with a mitochondrial acylcarnitine/carnitine translocase deficiency.线粒体酰基肉碱/肉碱转位酶缺乏的人皮肤成纤维细胞中过氧化物酶体脂肪酸氧化受损。
J Inherit Metab Dis. 1996;19(2):185-7. doi: 10.1007/BF01799425.
8
Carnitine and carnitine palmitoyltransferase in fatty acid oxidation and ketosis.肉碱及肉碱棕榈酰转移酶在脂肪酸氧化和酮症中的作用
Fed Proc. 1982 Oct;41(12):2853-7.
9
Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects.肉碱-脂酰肉碱转位酶缺乏症：临床、生化及遗传学方面
Mol Aspects Med. 2004 Oct-Dec;25(5-6):521-32. doi: 10.1016/j.mam.2004.06.007.
10
The role of carnitine in intracellular metabolism.肉碱在细胞内代谢中的作用。
J Clin Chem Clin Biochem. 1990 May;28(5):297-301.

引用本文的文献

1
Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study.左旋谷氨酸治疗肉碱-酰基肉碱转位酶缺乏症所致持续性高氨血症：病例报告
Mol Genet Metab Rep. 2025 Feb 7;42:101199. doi: 10.1016/j.ymgmr.2025.101199. eCollection 2025 Mar.
2
Sudden Death of a Four-Day-Old Newborn Due to Mitochondrial Trifunctional Protein/Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiencies and a Systematic Literature Review of Early Deaths of Neonates with Fatty Acid Oxidation Disorders.一名4日龄新生儿因线粒体三功能蛋白/长链3-羟基酰基辅酶A脱氢酶缺乏症猝死及脂肪酸氧化障碍新生儿早期死亡的系统文献综述
Int J Neonatal Screen. 2025 Jan 26;11(1):9. doi: 10.3390/ijns11010009.
3
Insulin Regulation of Hepatic Lipid Homeostasis.
胰岛素对肝脏脂质稳态的调节作用。
Compr Physiol. 2023 Jun 26;13(3):4785-4809. doi: 10.1002/cphy.c220015.
4
Increased acylcarnitine ratio indices in newborn screening for carnitine-acylcarnitine translocase deficiency shows increased sensitivity and reduced false-positivity.在肉碱-酰基肉碱转位酶缺乏症新生儿筛查中，酰基肉碱比率指数升高显示出敏感性增加和假阳性率降低。
Transl Pediatr. 2023 May 30;12(5):871-881. doi: 10.21037/tp-22-468. Epub 2023 Apr 13.
5
Long-Chain Acyl Carnitines Aggravate Polystyrene Nanoplastics-Induced Atherosclerosis by Upregulating MARCO.长链酰基辅酶 A 加剧聚苯乙烯纳米塑料诱导的动脉粥样硬化通过上调 MARCO。
Adv Sci (Weinh). 2023 Jul;10(19):e2205876. doi: 10.1002/advs.202205876. Epub 2023 May 5.
6
Carnitine-Acylcarnitine Translocase Deficiency Masked by Extreme Prematurity.极端早产掩盖的肉碱-酰基肉碱转位酶缺乏症
J Pediatr Genet. 2021 Feb 17;12(2):179-183. doi: 10.1055/s-0041-1723960. eCollection 2023 Jun.
7
Altered acylcarnitine metabolism and inflexible mitochondrial fuel utilization characterize the loss of neonatal myocardial regeneration capacity.酰基辅酶 A 代谢改变和线粒体燃料利用的僵化特征是新生儿心肌再生能力丧失的原因。
Exp Mol Med. 2023 Apr;55(4):806-817. doi: 10.1038/s12276-023-00967-5. Epub 2023 Apr 3.
8
One potential hotspot gene variants in Chinese patients with carnitine-acylcarnitine translocase deficiency.中国肉碱-脂酰肉碱转位酶缺乏症患者中一个潜在的热点基因变异。
Front Pediatr. 2022 Nov 7;10:1029004. doi: 10.3389/fped.2022.1029004. eCollection 2022.
9
Integrative metabolomic and proteomic signatures define clinical outcomes in severe COVID-19.整合代谢组学和蛋白质组学特征可确定重症 COVID-19 的临床结局。
iScience. 2022 Jul 15;25(7):104612. doi: 10.1016/j.isci.2022.104612. Epub 2022 Jun 17.
10
Metabolomic profiling of plasma from middle-aged and advanced-age male mice reveals the metabolic abnormalities of carnitine biosynthesis in metallothionein gene knockout mice.中年和老年雄性小鼠血浆代谢组学分析揭示了金属硫蛋白基因敲除小鼠肉碱生物合成的代谢异常。
Aging (Albany NY). 2021 Dec 1;13(23):24963-24988. doi: 10.18632/aging.203731.