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Glutaric aciduria; presence of glutaconic and beta-hydroxyglutaric acids in urine.

作者信息

Stokke O, Goodman S I, Thompson J A, Miles B S

出版信息

Biochem Med. 1975 Apr;12(4):386-91. doi: 10.1016/0006-2944(75)90071-x.

DOI:10.1016/0006-2944(75)90071-x
PMID:1164416
Abstract
摘要

相似文献

1
Glutaric aciduria; presence of glutaconic and beta-hydroxyglutaric acids in urine.戊二酸尿症；尿液中存在戊烯二酸和β-羟基戊二酸。
Biochem Med. 1975 Apr;12(4):386-91. doi: 10.1016/0006-2944(75)90071-x.
2
The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria.与3-羟基-3-甲基戊二酸尿症相关的尿有机酸谱。
Clin Chim Acta. 1976 Dec;73(3):553-9. doi: 10.1016/0009-8981(76)90160-1.
3
Organic acid and acylcarnitine profiles of glutaric aciduria type I.I型戊二酸血症的有机酸和酰基肉碱谱
Acta Paediatr Jpn. 1990 Feb;32(1):76-82. doi: 10.1111/j.1442-200x.1990.tb00787.x.
4
L-2-hydroxyglutaric aciduria: two further cases.
J Inherit Metab Dis. 1993;16(3):505-7. doi: 10.1007/BF00711666.
5
Glutaryl-CoA dehydrogenase deficiency presenting as 3-hydroxyglutaric aciduria.表现为3-羟基戊二酸尿症的戊二酰辅酶A脱氢酶缺乏症
Mol Genet Metab. 1999 Mar;66(3):199-204. doi: 10.1006/mgme.1998.2794.
6
Glutaric aciduria: biochemical and morphologic considerations.戊二酸尿症：生化及形态学方面的考量
J Pediatr. 1977 May;90(5):746-50. doi: 10.1016/s0022-3476(77)81240-7.
7
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.
8
Inhibition of brain glutamate decarboxylase by glutarate, glutaconate, and beta-hydroxyglutarate: explanation of the symptoms in glutaric aciduria?
Clin Chim Acta. 1976 Feb 2;66(3):411-5. doi: 10.1016/0009-8981(76)90241-2.
9
[Glutaric aciduria. 1 new case].[戊二酸尿症。1例新病例]
Arch Fr Pediatr. 1979 May;36(5):462-70.
10
Significance of bound glutarate in the diagnosis of glutaric aciduria type I.
J Inherit Metab Dis. 1992;15(3):367-70. doi: 10.1007/BF02435978.

引用本文的文献

1
Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I.印度I型戊二酸血症患者戊二酰辅酶A脱氢酶基因特定致病突变的基因筛查
J Pediatr Genet. 2017 Sep;6(3):142-148. doi: 10.1055/s-0037-1599202. Epub 2017 Mar 7.
2
Metabolic disturbances in diseases with neurological involvement.神经系统疾病相关的代谢紊乱。
Aging Dis. 2013 Nov 30;5(4):238-55. doi: 10.14336/AD.2014.0500238. eCollection 2014 Aug.
3
Glutaric aciduria yype 1: First reported cases in three Saudi patients.
戊二酸血症1型：沙特三名患者中的首例报告病例。
Ann Saudi Med. 1994 Jul;14(4):316-21. doi: 10.5144/0256-4947.1994.316.
4
Purification of glutaryl-CoA dehydrogenase from Pseudomonas sp., an enzyme involved in the anaerobic degradation of benzoate.从假单胞菌属中纯化戊二酰辅酶A脱氢酶，该酶参与苯甲酸的厌氧降解。
Arch Microbiol. 1993;159(2):174-81. doi: 10.1007/BF00250279.
5
An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.气相色谱-质谱联用技术与遗传性有机酸血症简介
Am J Hum Genet. 1980 Nov;32(6):781-92.
6
Antenatal diagnosis of glutaric acidemia.戊二酸血症的产前诊断
Am J Hum Genet. 1980 Sep;32(5):695-9.
7
Implication of a peroxisomal enzyme in the catabolism of glutaryl-CoA.一种过氧化物酶体酶在戊二酰辅酶A分解代谢中的作用。
Biochem J. 1984 Jul 1;221(1):203-11. doi: 10.1042/bj2210203.
8
Glutaric aciduria type I presenting with hypoglycaemia.
J Inherit Metab Dis. 1984;7(3):122-4. doi: 10.1007/BF01801769.
9
Specific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients.戊二酸尿症患者培养的成纤维细胞中特定的戊二酰辅酶A脱氢酶活性缺乏。
J Clin Invest. 1984 Mar;73(3):778-84. doi: 10.1172/JCI111271.
10
The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.多种酰基辅酶A脱氢酶缺乏症，即II型戊二酸尿症和乙基丙二酸-己二酸尿症。成纤维细胞中的线粒体脂肪酸氧化、酰基辅酶A脱氢酶及电子传递黄素蛋白活性。
J Clin Invest. 1986 Jul;78(1):205-13. doi: 10.1172/JCI112553.