D-2-羟基戊二酸尿症：临床和生化异质性的证据 - Suppr

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超能文献

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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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.

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.

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.

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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.

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

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