• 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

Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in beta-oxidation of fatty acids.

作者信息

Naylor E W, Mosovich L L, Guthrie R, Evans J E, Tieckelmann H

出版信息

J Inherit Metab Dis. 1980;3(1):19-24. doi: 10.1007/BF02312518.

DOI:10.1007/BF02312518
PMID:6774167
Abstract

Two siblings with intermittent hypoglycaemia, lethargy and coma associated with fatty infiltration of the liver are reported. Urine contained C6 to C14-dicarboxylic acids.

摘要

相似文献

1
Intermittent non-ketotic dicarboxylic aciduria in two siblings with hypoglycaemia: an apparent defect in beta-oxidation of fatty acids.
J Inherit Metab Dis. 1980;3(1):19-24. doi: 10.1007/BF02312518.
2
Mitochondropathy presenting with non-ketotic hypoglycaemia as 3-hydroxydicarboxylic aciduria.以3-羟基二羧酸尿症形式出现的伴有非酮症低血糖的线粒体病。
J Inherit Metab Dis. 1995;18(2):249-52. doi: 10.1007/BF00711780.
3
C6-C10-dicarboxylic aciduria: biochemical considerations in relation to diagnosis of beta-oxidation defects.C6 - C10二羧酸尿症：与β - 氧化缺陷诊断相关的生化考量
Scand J Clin Lab Invest Suppl. 1982;161:15-27. doi: 10.3109/00365518209168396.
4
Distinction of dicarboxylic aciduria due to medium-chain triglyceride feeding from that due to abnormal fatty acid oxidation and fasting in children.
Metabolism. 1996 Feb;45(2):162-7. doi: 10.1016/s0026-0495(96)90047-5.
5
The differential diagnosis of dicarboxylic aciduria.二羧酸尿症的鉴别诊断。
J Inherit Metab Dis. 1984;7 Suppl 1:48-51. doi: 10.1007/BF03047374.
6
Non-ketotic C6-C10-dicarboxylic aciduria: biochemical investigations of two cases.非酮症性C6 - C10 - 二羧酸尿症：两例病例的生化研究
Clin Chim Acta. 1980 Mar 28;102(2-3):179-89. doi: 10.1016/0009-8981(80)90031-5.
7
Prospective treatment in carnitine-acylcarnitine translocase deficiency.肉碱-酰基肉碱转位酶缺乏症的前瞻性治疗。
J Inherit Metab Dis. 2007 Oct;30(5):815. doi: 10.1007/s10545-007-0518-x. Epub 2007 May 12.
8
Dicarboxylic aciduria as an indicator of defective beta-oxidation in twin siblings with a vomiting sickness and hypoglycaemia similar to Jamaican vomiting sickness [proceedings].双羧酸尿症作为患有与牙买加呕吐病相似的呕吐病和低血糖症的双胞胎兄弟姐妹中β氧化缺陷的指标[会议记录]
Biochem Soc Trans. 1978;6(1):111-3. doi: 10.1042/bst0060111.
9
Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?与周围神经病变、色素性视网膜病变及C6 - C14羟基二羧酸尿症相关的家族性低酮性低血糖症。脂肪酸氧化的一种新缺陷？
J Inherit Metab Dis. 1988;11 Suppl 2:183-5. doi: 10.1007/BF01804230.
10
The biological origin of ketotic dicarboxylic aciduria. II. In vivo and in vitro investigations of the beta-oxidation of C8-C16-dicarboxylic acids in unstarved, starved and diabetic rats.酮症性二羧酸尿症的生物学起源。II. 未饥饿、饥饿和糖尿病大鼠体内及体外C8 - C16二羧酸β氧化的研究
Biochim Biophys Acta. 1982 Mar 12;710(3):477-84. doi: 10.1016/0005-2760(82)90132-1.

引用本文的文献

1
Characterization of altered myocardial fatty acid metabolism in patients with inherited cardiomyopathy.遗传性心肌病患者心肌脂肪酸代谢改变的特征分析
J Inherit Metab Dis. 2001 Nov;24(6):657-74. doi: 10.1023/a:1012711009687.
2
Prenatal diagnosis of glutaric aciduria type II by direct chemical analysis of dicarboxylic acids in amniotic fluid.通过对羊水二羧酸进行直接化学分析对II型戊二酸尿症进行产前诊断。
Eur J Pediatr. 1984 Jan;141(3):153-7. doi: 10.1007/BF00443213.
3
Gas chromatography--mass spectrometry (GC--MS) diagnosis of two cases of medium chain acyl-CoA dehydrogenase deficiency.

本文引用的文献

1
OMEGA-OXIDATION OF LONG CHAIN FATTY ACIDS IN RAT LIVER.大鼠肝脏中长链脂肪酸的ω-氧化
J Biol Chem. 1964 Jan;239:85-8.
2
On the mechanism of dehydrogenation of fatty acyl derivatives of coenzyme A. I. The general fatty acyl coenzyme A dehydrogenase.关于辅酶A的脂肪酰基衍生物的脱氢机制。I. 一般脂肪酰辅酶A脱氢酶
J Biol Chem. 1956 Feb;218(2):701-6.
3
The occurrence of adipic and suberic acid in urine from ketotic patients.酮症患者尿液中己二酸和辛二酸的出现。
气相色谱-质谱联用（GC-MS）诊断两例中链酰基辅酶A脱氢酶缺乏症
J Inherit Metab Dis. 1984;7 Suppl 1:44-7. doi: 10.1007/BF03047373.
4
Fatty acyl-CoA dehydrogenase deficiency: enzyme measurement and studies on alternative metabolism.
J Inherit Metab Dis. 1984;7 Suppl 1:28-32. doi: 10.1007/BF03047370.
5
A new patient with dicarboxylic aciduria suggestive of medium-chain Acyl-CoA dehydrogenase deficiency presenting as Reye's syndrome.一名新诊断为二羧酸尿症的患者，提示中链酰基辅酶A脱氢酶缺乏，表现为瑞氏综合征。
J Inherit Metab Dis. 1984;7(2):62-4. doi: 10.1007/BF01805804.
6
The inborn errors of mitochondrial fatty acid oxidation.线粒体脂肪酸氧化的先天性代谢缺陷。
J Inherit Metab Dis. 1987;10 Suppl 1:159-200. doi: 10.1007/BF01812855.
7
Defects of fatty acid oxidation in skeletal muscle.骨骼肌中脂肪酸氧化缺陷。
J Inherit Metab Dis. 1987;10 Suppl 1:105-12. doi: 10.1007/BF01812851.
8
Biochemical relationships between Reye's and Reye's-like metabolic and toxicological syndromes.瑞氏综合征及类瑞氏代谢与毒理学综合征之间的生化关系。
Med Toxicol Adverse Drug Exp. 1989 Jul-Aug;4(4):272-94. doi: 10.1007/BF03259913.
Clin Chim Acta. 1972 Apr;38(1):17-24. doi: 10.1016/0009-8981(72)90202-1.
4
Aliphatic C 6 -C 14 dicarboxylic acids in urine from an infant with fatal congenital lactic acidosis.
Clin Chim Acta. 1972 Oct;41:363-6. doi: 10.1016/0009-8981(72)90532-3.
5
Urinary excretion of C6-C10 dicarboxylic acids in glycogen storage disease types I and 3.
Clin Chim Acta. 1974 Feb 28;51(1):93-101. doi: 10.1016/0009-8981(74)90065-5.
6
A defect in pyruvate decarboxylase in a child with an intermittent movement disorder.一名患有间歇性运动障碍儿童的丙酮酸脱羧酶缺陷。
J Clin Invest. 1970 Mar;49(3):423-32. doi: 10.1172/JCI106251.
7
Formation of n-hexanedioic acid from hexadecanoic acid by an initial oxidation in ketotic rats.在酮症大鼠中，十六烷酸通过初始氧化形成己二酸。
Clin Chim Acta. 1972 Oct;41:231-7. doi: 10.1016/0009-8981(72)90516-5.
8
Glutaric aciduria type II: report on a previously undescribed metabolic disorder.II型戊二酸尿症：关于一种此前未被描述的代谢紊乱疾病的报告。
Clin Chim Acta. 1976 Jan 16;66(2):227-39. doi: 10.1016/0009-8981(76)90060-7.
9
Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria.来自一名二羧酸尿症患者尿液中的亚油酰甘氨酸排泄情况。
Clin Chim Acta. 1976 Aug 2;70(3):417-25. doi: 10.1016/0009-8981(76)90355-7.
10
The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical, and pathophysiologic features.全身性肉碱缺乏综合征。临床、形态学、生化及病理生理学特征。
Neurology. 1975 Jan;25(1):16-24. doi: 10.1212/wnl.25.1.16.