L-2-hydroxyglutaric aciduria and lactic acidosis.

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作者信息

Barth P G, Wanders R J, Scholte H R, Abeling N, Jakobs C, Schutgens R B, Vreken P

机构信息

Department of Pediatrics, Emma Children's Hospital, Amsterdam, The Netherlands.

出版信息

J Inherit Metab Dis. 1998 Jun;21(3):251-4. doi: 10.1023/a:1005316121584.

DOI:10.1023/a:1005316121584

PMID:9686369

Abstract

摘要

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Clinical and magnetic resonance imaging features of L-2-hydroxyglutaric acidemia: report of three cases in comparison with Canavan disease.

J Child Neurol. 1996 Sep;11(5):373-7. doi: 10.1177/088307389601100505.

L-2-Hydroxyglutaric aciduria: neuropathological correlations and first report of severe neurodegenerative disease and neonatal death.

J Inherit Metab Dis. 1996;19(3):335-43. doi: 10.1007/BF01799264.

Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia.一名患有乳酸性酸中毒和低酮性低血糖症患者肝脏中线粒体DNA的耗竭。

J Pediatr. 1996 May;128(5 Pt 1):679-83. doi: 10.1016/s0022-3476(96)80134-x.

L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase.L-2-羟基戊二酸血症：12例患者的临床和生化检查结果及L-2-羟基酸脱氢酶的初步报告

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L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia.L-2-羟基戊二酸脱氢酶：大鼠和人肝脏中一种新型酶活性的鉴定。对L-2-羟基戊二酸血症的意义。

Biochim Biophys Acta. 1993 Nov 25;1225(1):53-6. doi: 10.1016/0925-4439(93)90121-g.

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