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D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?

作者信息

Gibson K M, Craigen W, Herman G E, Jakobs C

机构信息

Metabolic Disease Center, Baylor Research Institute, Dallas, Texas, USA.

出版信息

J Inherit Metab Dis. 1993;16(3):497-500. doi: 10.1007/BF00711664.

DOI:10.1007/BF00711664
PMID:7609436
Abstract
摘要

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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.
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L-2-hydroxyglutaric aciduria: three Australian cases.
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4
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Progress in understanding 2-hydroxyglutaric acidurias.对 2-羟戊二酸尿症的认识进展。

本文引用的文献

1
The reversible dehydration of (R)-2-hydroxyglutarate to (E)-glutaconate.(R)-2-羟基戊二酸向(E)-戊烯二酸的可逆脱水反应。
Eur J Biochem. 1980 May;106(2):439-47. doi: 10.1111/j.1432-1033.1980.tb04590.x.
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
D-2-hydroxyglutaric aciduria: case report and biochemical studies.D-2-羟基戊二酸尿症：病例报告及生化研究
J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6.
4
Clinical review of genetic epileptic encephalopathies.遗传性癫痫性脑病的临床综述
Eur J Med Genet. 2012 May;55(5):281-98. doi: 10.1016/j.ejmg.2011.12.010. Epub 2012 Jan 25.
5
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.D-2-羟基戊二酸尿症：解析生化途径及遗传缺陷
J Inherit Metab Dis. 2006 Feb;29(1):21-9. doi: 10.1007/s10545-006-0317-9.
6
Kinetic characterization of human hydroxyacid-oxoacid transhydrogenase: relevance to D-2-hydroxyglutaric and gamma-hydroxybutyric acidurias.人羟基酸-氧代酸转氢酶的动力学特征：与D-2-羟基戊二酸尿症和γ-羟基丁酸尿症的相关性。
J Inherit Metab Dis. 2005;28(6):921-30. doi: 10.1007/s10545-005-0114-x.
7
Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.D-2-羟基戊二酸脱氢酶基因突变导致D-2-羟基戊二酸尿症。
Am J Hum Genet. 2005 Feb;76(2):358-60. doi: 10.1086/427890. Epub 2004 Dec 17.
8
Inhibition of mitochondrial creatine kinase activity by D-2-hydroxyglutaric acid in cerebellum of young rats.D-2-羟基戊二酸对幼鼠小脑线粒体肌酸激酶活性的抑制作用。
Neurochem Res. 2003 Sep;28(9):1329-37. doi: 10.1023/a:1024936129908.
9
D-2-Hydroxyglutaric aciduria in a patient with a severe clinical phenotype and unusual MRI findings.
J Inherit Metab Dis. 2002 Feb;25(1):28-34. doi: 10.1023/a:1015165212965.
10
D-2-hydroxyglutaric aciduria: further clinical delineation.D-2-羟基戊二酸尿症：进一步的临床描述
J Inherit Metab Dis. 1999 Jun;22(4):404-13. doi: 10.1023/a:1005548005393.
J Inherit Metab Dis. 1980;3(1):11-5. doi: 10.1007/BF02312516.
4
Propionate metabolism. 3. Studies on the significance of the alpha-hydroxyglutarate pathway.
Arch Biochem Biophys. 1968 Jan;123(1):62-5. doi: 10.1016/0003-9861(68)90103-3.
5
Isolation and characterization of a hydroxyacid-oxoacid transhydrogenase from rat kidney mitochondria.
J Biol Chem. 1988 Nov 15;263(32):16872-9.
6
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.
7
alpha-Hydroxyglutarate as an intermediate in the catabolism of alpha-aminoadipate by Pseudomonas putida.
J Biol Chem. 1979 May 10;254(9):3259-63.