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Glutaric aciduria: inherited deficiency of glutaryl-CoA dehydrogenase activity.

作者信息

Goodman S I, Kohlhoff J G

出版信息

Biochem Med. 1975 Jun;13(2):138-40. doi: 10.1016/0006-2944(75)90149-0.

DOI:10.1016/0006-2944(75)90149-0
PMID:1191271
Abstract
摘要

相似文献

1
Glutaric aciduria: inherited deficiency of glutaryl-CoA dehydrogenase activity.戊二酸尿症：戊二酰辅酶A脱氢酶活性的遗传性缺乏。
Biochem Med. 1975 Jun;13(2):138-40. doi: 10.1016/0006-2944(75)90149-0.
2
Glutaric aciduria type I: enzymatic and neuroradiologic investigations of two kindreds.
J Pediatr. 1989 Jun;114(6):983-9. doi: 10.1016/s0022-3476(89)80442-1.
3
Ketotic episodes in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria).
Pediatr Res. 1979 Sep;13(9):977-81. doi: 10.1203/00006450-197909000-00005.
4
Glutaric aciduria: clinical and laboratory findings in two brothers.戊二酸尿症：两兄弟的临床及实验室检查结果
J Pediatr. 1977 May;90(5):740-5. doi: 10.1016/s0022-3476(77)81239-0.
5
Feasibility of molecular prenatal diagnosis of glutaric aciduria type I in chorionic villi.绒毛膜绒毛中I型戊二酸血症分子产前诊断的可行性
J Inherit Metab Dis. 1998 Jun;21(3):243-6. doi: 10.1023/a:1005359920675.
6
Glutaric aciduria; a "new" disorder of amino acid metabolism.戊二酸尿症；一种氨基酸代谢的“新”紊乱症。
Biochem Med. 1975 Jan;12(1):12-21. doi: 10.1016/0006-2944(75)90091-5.
7
Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria.白细胞、成纤维细胞和羊水细胞中戊二酰辅酶A脱氢酶的研究。戊二酸尿症患者的正常酶和突变形式。
Clin Chim Acta. 1978 Sep 1;88(2):267-76. doi: 10.1016/0009-8981(78)90431-x.
8
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.
9
Glutaric aciduria type I presenting with hypoglycaemia.
J Inherit Metab Dis. 1984;7(3):122-4. doi: 10.1007/BF01801769.
10
Glutaric aciduria in progressive choreo-athetosis.进行性舞蹈手足徐动症中的戊二酸尿症
Clin Genet. 1978 Jan;13(1):77-80. doi: 10.1111/j.1399-0004.1978.tb04131.x.

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Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model.在I型戊二酸血症小鼠模型中，腺相关病毒-戊二酸辅酶A脱氢酶（AAV-GCDH）的全身递送改善了戊二酸血症（HLD）诱导的表型。
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Functions and Mechanisms of Lysine Glutarylation in Eukaryotes.真核生物中赖氨酸戊二酰化的功能与机制
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Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice.长时赖氨酸饮食加剧戊二酰辅酶 A 脱氢酶缺乏（Gcdh-/-）小鼠的白质损伤。
Mol Neurobiol. 2019 Jan;56(1):648-657. doi: 10.1007/s12035-018-1077-x. Epub 2018 May 19.
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Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma.尽管患有垂直 HIV 感染和轻微头部外伤，患有 1 型戊二酸血症的儿童仍有良好的预后。
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Promising outcomes in glutaric aciduria type I patients detected by newborn screening.新生儿筛查发现Ⅰ型戊二酸血症患者的良好转归。
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Caspase-3 mediates apoptosis of striatal cells in GA I rat model.半胱天冬酶-3介导GA I大鼠模型中纹状体细胞的凋亡。
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Induction of oxidative stress by chronic and acute glutaric acid administration to rats.通过向大鼠长期和急性给予戊二酸诱导氧化应激。
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Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.患有I型戊二酸血症的幼鼠对3-硝基丙酸毒性的易感性增加。
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