有机酸代谢紊乱中的质谱分析。 - Suppr

Suppr

超能文献

Mass spectrometry in disorders of organic acid metabolism.

作者信息

Niwa T

机构信息

Department of Clinical Laboratory, Nagoya University Branch Hospital, Japan.

出版信息

Clin Chim Acta. 1995 Oct-Nov;241-242:293-384.

PMID:8612342

Abstract

摘要

相似文献

Mass spectrometry in disorders of organic acid metabolism.有机酸代谢紊乱中的质谱分析。

Clin Chim Acta. 1995 Oct-Nov;241-242:293-384.

Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.具有正常体外活性的症状性鸟氨酸氨甲酰基转移酶缺乏症（点突变H202P）

J Inherit Metab Dis. 1998 Feb;21(1):71-2. doi: 10.1023/a:1005315531630.

[Hyperammonemia in childhood. II. Enzymopathies not related to the urea cycle].儿童高氨血症。II. 与尿素循环无关的酶病

Pediatr Pol. 1988 Feb;63(2):129-36.

Chromatographic analysis of amino and organic acids in physiological fluids to detect inborn errors of metabolism.生理体液中氨基酸和有机酸的色谱分析，以检测先天性代谢缺陷。

Curr Protoc Hum Genet. 2006 Nov;Chapter 17:Unit 17.2. doi: 10.1002/0471142905.hg1702s51.

beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia?β-酮硫解酶（2-甲基乙酰乙酰辅酶A硫解酶）缺乏症：突尼斯的常见疾病？

J Inherit Metab Dis. 1999 Dec;22(8):932-3. doi: 10.1023/a:1005695524913.

Molecular basis of 3-ketothiolase deficiency.3-酮硫解酶缺乏症的分子基础。

Prog Clin Biol Res. 1992;375:573-81.

Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.线粒体乙酰乙酰辅酶A硫解酶（T2）缺乏症：先前通过与巴豆酰辅酶A的偶联测定，携带“轻度”突变的T2缺乏症患者被误诊为正常。

Pediatr Res. 2004 Jul;56(1):60-4. doi: 10.1203/01.PDR.0000129657.48122.52. Epub 2004 May 5.

Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening.通过气相色谱/质谱联用仪分析尿有机酸而非进行群体筛查检测出的亚洲有机酸血症患儿的临床起病情况和预后。

Brain Dev. 2005 Jan;27(1):39-45. doi: 10.1016/j.braindev.2004.04.004.

Ornithine transcarbamylase deficiency: a model for gene therapy.鸟氨酸转氨甲酰酶缺乏症：基因治疗的一个模型。

Adv Exp Med Biol. 1994;368:145-54. doi: 10.1007/978-1-4615-1989-8_15.

[Quantitative analysis of urinary organic acid].[尿有机酸的定量分析]

Rinsho Byori. 1992 Jul;40(7):743-50.

引用本文的文献

Medium-Chain Acyl-CoA Dehydrogenase Deficiency Disorder as a Cause of Acute Liver Failure in a 23-Month-Old Baby.中链酰基辅酶A脱氢酶缺乏症导致一名23个月大婴儿急性肝衰竭

J Med Cases. 2025 Mar;16(3):114-119. doi: 10.14740/jmc5093. Epub 2025 Feb 27.

Potential Biomarkers of Mitochondrial Dysfunction Associated with COVID-19 Infection.与 COVID-19 感染相关的线粒体功能障碍的潜在生物标志物。

Adv Exp Med Biol. 2023;1412:211-224. doi: 10.1007/978-3-031-28012-2_11.

Liquid chromatographic-mass spectrometric method for simultaneous determination of small organic acids potentially contributing to acidosis in severe malaria.液相色谱-质谱联用同时测定严重疟疾酸中毒潜在贡献的小分子有机酸的方法。

J Chromatogr B Analyt Technol Biomed Life Sci. 2013 Dec 15;941:116-22. doi: 10.1016/j.jchromb.2013.10.005. Epub 2013 Oct 16.

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