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Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria.

作者信息

Hoffmann G F, Jakobs C, Holmes B, Mitchell L, Becker G, Hartung H P, Nyhan W L

机构信息

Department of Pediatrics, University of Marburg, Germany.

出版信息

J Inherit Metab Dis. 1995;18(2):189-93. doi: 10.1007/BF00711763.

DOI:10.1007/BF00711763
PMID:7564243
Abstract
摘要

相似文献

1
Organic acids in cerebrospinal fluid and plasma of patients with L-2-hydroxyglutaric aciduria.
J Inherit Metab Dis. 1995;18(2):189-93. doi: 10.1007/BF00711763.
2
L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?L-2-羟基戊二酸尿症：一种先天性代谢缺陷病？
J Inherit Metab Dis. 1980;3(4):109-12. doi: 10.1007/BF02312543.
3
Physiology and pathophysiology of organic acids in cerebrospinal fluid.脑脊液中有机酸的生理学与病理生理学
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4
L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family.
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5
Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.L-2-羟基戊二酸尿症的新见解：质量同位素异构体研究揭示2-氧代戊二酸是L-2-羟基戊二酸的代谢前体。
J Inherit Metab Dis. 2007 Oct;30(5):690-3. doi: 10.1007/s10545-007-0697-5. Epub 2007 Sep 17.
6
Hemiconvulsion-hemiplegia-epilepsy syndrome as a presenting feature of L-2-hydroxyglutaric aciduria.偏侧惊厥-偏瘫-癫痫综合征作为L-2-羟基戊二酸尿症的首发特征
J Child Neurol. 2006 Jun;21(6):538-40. doi: 10.1177/08830738060210061601.
7
Medium-chain triglycerides: a pitfall in the assay of organic acids in cerebrospinal fluid.中链甘油三酯：脑脊液中有机酸检测的一个陷阱。
J Inherit Metab Dis. 1991;14(5):841. doi: 10.1007/BF01799964.
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L-2-Hydroxyglutaric aciduria in Staffordshire Bull Terriers.
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D-2-hydroxyglutaric aciduria.D-2-羟基戊二酸尿症
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10
[L-2-hydroxyglutaric aciduria, an error of metabolism].[L-2-羟基戊二酸尿症，一种代谢紊乱疾病]
Bull Mem Acad R Med Belg. 2007;162(10-12):451-6; discussion 456-7.

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Genetic, neuroimaging, and clinical characteristics of a cohort of individuals with L-2-hydroxyglutaric aciduria from Türkiye.来自土耳其的一组L-2-羟基戊二酸尿症患者的遗传学、神经影像学和临床特征。
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Classic Imaging Features of L-2-Hydroxyglutaric Aciduria in Young Adult Presenting as Seizures Associated with Fever.以发热相关癫痫发作为表现的年轻成人L-2-羟基戊二酸尿症的典型影像学特征
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本文引用的文献

1
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.L-2-羟基戊二酸血症：12例患者的临床和生化检查结果及L-2-羟基酸脱氢酶的初步报告
J Inherit Metab Dis. 1993;16(4):753-61. doi: 10.1007/BF00711907.
2
Quantitative organic acid analysis in cerebrospinal fluid and plasma: reference values in a pediatric population.
J Chromatogr. 1993 Jul 23;617(1):1-10. doi: 10.1016/0378-4347(93)80414-y.
3
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias.D-和L-2-羟基戊二酸的稳定同位素稀释分析：在D-和L-2-羟基戊二酸血症检测及产前诊断中的应用
有机酸血症中线粒体动态平衡的破坏：来自人体和动物研究的见解。
J Bioenerg Biomembr. 2011 Feb;43(1):31-8. doi: 10.1007/s10863-011-9324-0.
4
Inflammatory multiple-sclerosis plaques generate characteristic metabolic profiles in cerebrospinal fluid.炎症性多发性硬化斑块在脑脊液中产生特征性的代谢特征。
PLoS One. 2007 Jul 4;2(7):e595. doi: 10.1371/journal.pone.0000595.
5
Effects of L-2-hydroxyglutaric acid on various parameters of the glutamatergic system in cerebral cortex of rats.L-2-羟基戊二酸对大鼠大脑皮层谷氨酸能系统各项参数的影响。
Metab Brain Dis. 2003 Sep;18(3):233-43. doi: 10.1023/a:1025559200816.
Pediatr Res. 1993 Sep;34(3):277-80. doi: 10.1203/00006450-199309000-00007.
4
D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?一名患有神经异常的新生儿的D-2-羟基戊二酸尿症：一种新的神经代谢紊乱疾病？
J Inherit Metab Dis. 1993;16(3):497-500. doi: 10.1007/BF00711664.
5
Stable isotope dilution analysis of GABA in CSF using simple solvent extraction and electron-capture negative-ion mass fragmentography.使用简单溶剂萃取和电子捕获负离子质谱碎片分析法对脑脊液中的γ-氨基丁酸进行稳定同位素稀释分析。
J Inherit Metab Dis. 1993;16(3):508-12. doi: 10.1007/BF00711667.
6
Stable isotope dilution analysis of pipecolic acid in cerebrospinal fluid, plasma, urine and amniotic fluid using electron capture negative ion mass fragmentography.使用电子捕获负离子质谱碎片分析法对脑脊液、血浆、尿液和羊水中的哌啶酸进行稳定同位素稀释分析。
Clin Chim Acta. 1987 Sep 30;168(2):143-52. doi: 10.1016/0009-8981(87)90283-x.
7
Quantitative analysis for organic acids in biological samples: batch isolation followed by gas chromatographic-mass spectrometric analysis.生物样品中有机酸的定量分析：批量分离后气相色谱-质谱分析。
Clin Chem. 1989 Apr;35(4):587-95.
8
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease.L-2-羟基戊二酸血症：一种新型遗传性神经代谢疾病。
Ann Neurol. 1992 Jul;32(1):66-71. doi: 10.1002/ana.410320111.
9
Pipecolic acid pathway: the major lysine metabolic route in the rat brain.
Biochem Biophys Res Commun. 1976 Mar 8;69(1):174-80. doi: 10.1016/s0006-291x(76)80288-4.