A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L-2 Hydroxyglutaric Aciduria.
作者信息
Shah Heli, Chandarana Mitesh, Sheth Jayesh, Shah Sudhir
机构信息
Department of Neurology Jivraj Mehta Hospital Ahmedabad India.
Department of Neurology Neuro1 Brain and Spine Institute Ahmedabad India.
出版信息
Mov Disord Clin Pract. 2020 May 20;7(5):560-563. doi: 10.1002/mdc3.12967. eCollection 2020 Jul.
Abstract
摘要
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本文引用的文献
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Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria.一名儿童L2-羟基戊二酸尿症病例的系列磁共振成像检查结果。
Radiol Case Rep. 2019 Nov 9;15(1):59-64. doi: 10.1016/j.radcr.2019.09.035. eCollection 2020 Jan.
2
Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort.L-2-羟基戊二酸尿症的临床放射学谱：印度队列中的典型和非典型表现
J Clin Imaging Sci. 2019 Feb 27;9:3. doi: 10.25259/JCIS-9-3. eCollection 2019.
3
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.一个中国男孩患 L-2-羟戊二酸尿症，携带 L2HGDH 基因的新型复合杂合突变：病例报告及文献复习。
Neurol Sci. 2018 Oct;39(10):1697-1703. doi: 10.1007/s10072-018-3483-2. Epub 2018 Jul 6.
4
Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.一个大型近亲巴基斯坦家族中 L2HGDH 基因突变的鉴定：病例报告。
BMC Med Genet. 2018 Feb 20;19(1):25. doi: 10.1186/s12881-018-0532-x.
5
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.L2HGDH基因中c.241A>G突变的奠基者效应证实及六个突尼斯L-2-羟基戊二酸尿症家系氧化应激参数的特征分析
J Hum Genet. 2014 Apr;59(4):216-22. doi: 10.1038/jhg.2014.4. Epub 2014 Feb 27.
6
L-2-hydroxyglutaric aciduria diagnosed in a young adult with progressive cerebellar ataxia and facial dyskinesia.诊断为年轻成人进行性小脑共济失调和面部运动障碍的 L-2-羟戊二酸尿症。
Rev Neurol (Paris). 2012 Feb;168(2):187-91. doi: 10.1016/j.neurol.2011.06.002. Epub 2011 Oct 24.
7
Riboflavin treatment in a case with l-2-hydroxyglutaric aciduria.1-2-羟基戊二酸尿症一例的核黄素治疗
Eur J Paediatr Neurol. 2009 Jan;13(1):57-60. doi: 10.1016/j.ejpn.2008.01.003. Epub 2008 Mar 17.
8
L-2-Hydroxyglutaric aciduria: clinical, genetic, and brain MRI characteristics in two adult sisters.L-2-羟基戊二酸尿症：两名成年姐妹的临床、遗传及脑部磁共振成像特征
Eur J Neurol. 2006 May;13(5):499-504. doi: 10.1111/j.1468-1331.2006.01282.x.
9
The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.在L-2-羟基戊二酸尿症中发生突变的基因编码L-2-羟基戊二酸脱氢酶。
Biochimie. 2006 Jan;88(1):113-6. doi: 10.1016/j.biochi.2005.06.005. Epub 2005 Jun 23.
10
Induction of oxidative stress by L-2-hydroxyglutaric acid in rat brain.L-2-羟基戊二酸在大鼠脑中诱导氧化应激
J Neurosci Res. 2003 Oct 1;74(1):103-10. doi: 10.1002/jnr.10735.
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