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D-2-hydroxyglutaric aciduria: evidence of clinical and biochemical heterogeneity.

作者信息

Wagner L, Hoffmann G F, Jakobs C

机构信息

Department of Metabolic Diseases, University Children's Hospital of Marburg, Germany.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):247-50. doi: 10.1023/a:1005364004746.

DOI:10.1023/a:1005364004746
PMID:9686368
Abstract
摘要

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D-2-hydroxyglutaric aciduria: hypotonia, cortical blindness, seizures, cardiomyopathy, and cylindrical spirals in skeletal muscle.D-2-羟基戊二酸尿症：肌张力减退、皮质盲、癫痫发作、心肌病以及骨骼肌中的圆柱状螺旋体。
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Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I.通过稳定同位素稀释分析法测定游离和总戊二酸以及3-羟基戊二酸用于诊断I型戊二酸血症的敏感性和特异性。
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引用本文的文献

1
Progress in understanding 2-hydroxyglutaric acidurias.对 2-羟戊二酸尿症的认识进展。
J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6.

本文引用的文献

1
A novel alpha-ketoglutarate reductase activity of the serA-encoded 3-phosphoglycerate dehydrogenase of Escherichia coli K-12 and its possible implications for human 2-hydroxyglutaric aciduria.大肠杆菌K-12中由serA编码的3-磷酸甘油酸脱氢酶的一种新型α-酮戊二酸还原酶活性及其对人类2-羟基戊二酸尿症的可能影响。
J Bacteriol. 1996 Jan;178(1):232-9. doi: 10.1128/jb.178.1.232-239.1996.
2
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
Pediatr Res. 1993 Sep;34(3):277-80. doi: 10.1203/00006450-199309000-00007.
3
D-2-hydroxyglutaric aciduria.
D-2-羟基戊二酸尿症
J Child Neurol. 1995 Mar;10(2):137-42. doi: 10.1177/088307389501000216.
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
D-2-hydroxyglutaric aciduria in neonate with seizures and CNS dysfunction.患有癫痫和中枢神经系统功能障碍的新生儿的D-2-羟基戊二酸尿症
Pediatr Neurol. 1994 Feb;10(1):49-53. doi: 10.1016/0887-8994(94)90067-1.
6
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. 1980;3(1):11-5. doi: 10.1007/BF02312516.