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Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.

作者信息

Christensen E

出版信息

Clin Chim Acta. 1983 Mar 28;129(1):91-7. doi: 10.1016/0009-8981(83)90155-9.

DOI:10.1016/0009-8981(83)90155-9
PMID:6687844
Abstract
摘要

相似文献

1
Improved assay of glutaryl-CoA dehydrogenase in cultured cells and liver: application to glutaric aciduria type I.培养细胞和肝脏中戊二酰辅酶A脱氢酶检测方法的改进：应用于I型戊二酸尿症
Clin Chim Acta. 1983 Mar 28;129(1):91-7. doi: 10.1016/0009-8981(83)90155-9.
2
Glutaric aciduria type II: evidence for a defect related to the electron transfer flavoprotein or its dehydrogenase.II型戊二酸尿症：与电子传递黄素蛋白或其脱氢酶相关缺陷的证据。
Pediatr Res. 1984 Jul;18(7):663-7. doi: 10.1203/00006450-198407000-00020.
3
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.
4
Conservation of central nervous system glutaryl-coenzyme A dehydrogenase in fruit-eating bats with glutaric aciduria and deficient hepatic glutaryl-coenzyme A dehydrogenase.食果蝙蝠中枢神经系统戊二酰辅酶A脱氢酶的保存情况，这些蝙蝠患有戊二酸尿症且肝脏戊二酰辅酶A脱氢酶缺乏。
J Biol Chem. 1988 Nov 25;263(33):17258-61.
5
Glutaryl-CoA dehydrogenase activity determined with intact electron-transport chain: application to glutaric aciduria type II.
J Inherit Metab Dis. 1984;7 Suppl 2:103-4. doi: 10.1007/978-94-009-5612-4_26.
6
A fibroblast glutaryl-CoA dehydrogenase assay using detritiation of 3H-labelled glutaryl-CoA: application in the genotyping of the glutaryl-CoA dehydrogenase locus.一种利用3H标记的戊二酰辅酶A的氘化作用进行的成纤维细胞戊二酰辅酶A脱氢酶测定：在戊二酰辅酶A脱氢酶基因座基因分型中的应用
Clin Chim Acta. 1993 Oct 29;220(1):71-80. doi: 10.1016/0009-8981(93)90007-q.
7
Organic aciduria in the riboflavin-deficient rat.核黄素缺乏大鼠中的有机酸尿症
Am J Clin Nutr. 1981 Nov;34(11):2434-7. doi: 10.1093/ajcn/34.11.2434.
8
Glutaric aciduria type I: unusual biochemical presentation.
J Pediatr. 1992 Jul;121(1):83-6. doi: 10.1016/s0022-3476(05)82548-x.
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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
Glutaric aciduria type I presenting with hypoglycaemia.
J Inherit Metab Dis. 1984;7(3):122-4. doi: 10.1007/BF01801769.

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戊二酸血症I型患者诊断与管理的建议方案：第二次修订版
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Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele.通过新生儿筛查发现的患者中存在框内缺失杂合子导致戊二酰辅酶 A 脱氢酶缺乏症：突变等位基因的影响研究。
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J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23.
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Prolidase deficiency: it looks like systemic lupus erythematosus but it is not.脯氨酰内肽酶缺乏症：它看起来像系统性红斑狼疮，但它不是。
Eur J Pediatr. 2010 Jun;169(6):727-32. doi: 10.1007/s00431-009-1102-1. Epub 2009 Nov 24.
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Glutaric aciduria type I: outcome following detection by newborn screening.I型戊二酸血症：新生儿筛查检测后的结局
J Inherit Metab Dis. 2008 Aug;31(4):503-7. doi: 10.1007/s10545-008-0912-z. Epub 2008 Aug 9.
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Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).戊二酰辅酶A脱氢酶缺乏症（I型戊二酸血症）诊断与管理指南
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Glutaric aciduria type I: outcome in the Republic of Ireland.I型戊二酸血症：爱尔兰共和国的治疗结果。
J Inherit Metab Dis. 2004;27(6):917-20. doi: 10.1023/B:BOLI.0000045777.82784.74.