• 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

Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis.

作者信息

de Almeida I T, Duran M, Silva M F, Portela R, Cabral A, Tasso T, Eusébio F, Silveira C

机构信息

Centro de Metabolismos e Genética (INIC), Faculdade de Farmácia, Lisboa, Portugal.

出版信息

J Inherit Metab Dis. 1991;14(2):259-62. doi: 10.1007/BF01800600.

DOI:10.1007/BF01800600
PMID:1886409
Abstract
摘要

相似文献

1
Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis.轻度甲基丙二酸尿症在酮症危象期间被误诊为丙酸血症。
J Inherit Metab Dis. 1991;14(2):259-62. doi: 10.1007/BF01800600.
2
Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemia.甲基丙二酸血症患者酮症发作期间异亮氨酸代谢紊乱。
J Inherit Metab Dis. 1978;1(3):105-7. doi: 10.1007/BF01805683.
3
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.“经典型”有机酸尿症、丙酸血症、甲基丙二酸血症和异戊酸血症：串联质谱法用于扩大新生儿筛查的长期结果及影响
J Inherit Metab Dis. 2006 Apr-Jun;29(2-3):383-9. doi: 10.1007/s10545-006-0278-z.
4
Methylmalonic aciduria and propionic acidaemia studied by proton nuclear magnetic resonance spectroscopy.通过质子核磁共振波谱法研究甲基丙二酸尿症和丙酸血症。
Clin Chim Acta. 1986 Dec 15;161(2):173-89. doi: 10.1016/0009-8981(86)90211-1.
5
The identification of (E)-2-methylglutaconic acid, a new isoleucine metabolite, in the urine of patients with beta-ketothiolase deficiency, propionic acidaemia and methylmalonic acidaemia.在β-酮硫解酶缺乏症、丙酸血症和甲基丙二酸血症患者尿液中鉴定出一种新的异亮氨酸代谢产物——（E）-2-甲基戊二酸。
Biomed Mass Spectrom. 1982 Jan;9(1):1-5. doi: 10.1002/bms.1200090102.
6
Methylcitric acid determination in amniotic fluid by electron-impact mass fragmentography.通过电子轰击质谱碎片分析法测定羊水中的甲基柠檬酸
J Clin Chem Clin Biochem. 1988 May;26(5):345-8. doi: 10.1515/cclm.1988.26.5.345.
7
Methylmalonic aciduria: current faces of a "classical" organic aciduria.
J Inherit Metab Dis. 2008 Jun;31(3):293-4. doi: 10.1007/s10545-008-9977-y.
8
The impact of screening for propionic and methylmalonic acidaemia.
Eur J Pediatr. 2003 Dec;162 Suppl 1:S21-4. doi: 10.1007/s00431-003-1345-1. Epub 2003 Oct 30.
9
Prenatal diagnosis of propionic and methylmalonic acidaemia by stable isotope dilution analysis of amniotic fluid.通过羊水的稳定同位素稀释分析对丙酸血症和甲基丙二酸血症进行产前诊断。
J Inherit Metab Dis. 1989;12 Suppl 2:271-3. doi: 10.1007/BF03335395.
10
On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias.丙酸血症和甲基丙二酸血症中尿代谢物排泄与奇数脂肪酸生成的差异
J Inherit Metab Dis. 1995;18(5):584-91. doi: 10.1007/BF02436003.

引用本文的文献

1
Group tests for selective screening of inborn errors of metabolism.
Eur J Pediatr. 1994;153(7 Suppl 1):S27-32. doi: 10.1007/BF02138774.

本文引用的文献

1
Benign methylmalonic aciduria.良性甲基丙二酸尿症
N Engl J Med. 1984 Oct 18;311(16):1015-8. doi: 10.1056/NEJM198410183111604.
2
The natural history of the inherited methylmalonic acidemias.遗传性甲基丙二酸血症的自然病史。
N Engl J Med. 1983 Apr 14;308(15):857-61. doi: 10.1056/NEJM198304143081501.
3
Isolation and identification of methylcitrate, a major metabolic product of propionate in patients with propionic acidemia.丙酸血症患者中丙酸主要代谢产物柠檬酸甲酯的分离与鉴定。
J Biol Chem. 1972 Apr 10;247(7):2200-4.
4
3-hydroxypropionate: significance of -oxidation of propionate in patients with propionic acidemia and methylmalonic acidemia.3-羟基丙酸：丙酸血症和甲基丙二酸血症患者中丙酸β氧化的意义
Proc Natl Acad Sci U S A. 1972 Oct;69(10):2807-11. doi: 10.1073/pnas.69.10.2807.
5
Octanoylglucuronide excretion in patients with a defective oxidation of medium-chain fatty acids.
Clin Chim Acta. 1985 Nov 15;152(3):253-60. doi: 10.1016/0009-8981(85)90100-7.
6
The variability of metabolite excretion in propionicacidaemia.丙酸血症中代谢物排泄的变异性。
Clin Chim Acta. 1978 Jan 2;82(1-2):93-9. doi: 10.1016/0009-8981(78)90030-x.