表现为间歇性共济失调和小脑萎缩的高精氨酸血症 - Suppr

Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy.

作者信息

Cornelius Leema P, Raju Vivekasaravanan, Julin Asir

机构信息

Department of Paediatric Neurology, Institute of Child Health and Hospital for Children, Madras Medical College, Chennai, Tamil Nadu, India.

出版信息

Ann Indian Acad Neurol. 2020 May-Jun;23(3):380-381. doi: 10.4103/aian.AIAN_130_19. Epub 2020 Jun 10.

DOI:10.4103/aian.AIAN_130_19

PMID:32606543

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7313582/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ef3a/7313582/dfe1276492ec/AIAN-23-380-g001.jpg

相似文献

Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy.

Ann Indian Acad Neurol. 2020 May-Jun;23(3):380-381. doi: 10.4103/aian.AIAN_130_19. Epub 2020 Jun 10.

Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.

J Neuroimaging. 2014 Mar-Apr;24(2):155-60. doi: 10.1111/j.1552-6569.2012.00739.x. Epub 2012 Aug 28.

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia.

Brain. 2015 May;138(Pt 5):1182-97. doi: 10.1093/brain/awv064. Epub 2015 Mar 28.

Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging.

Funct Neurol. 2016 Oct/Dec;31(4):239-248. doi: 10.11138/fneur/2016.31.4.239.

Neuroimaging findings in hyperargininemia.

J Neuroimaging. 2008 Oct;18(4):457-62. doi: 10.1111/j.1552-6569.2007.00217.x. Epub 2008 Jan 7.

Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.

Pediatr Neurol. 2016 Sep;62:58-61. doi: 10.1016/j.pediatrneurol.2016.03.020. Epub 2016 Jun 4.

Idiopathic very late-onset cerebellar ataxia: a Brazilian case series.

Arq Neuropsiquiatr. 2015 Nov;73(11):903-5. doi: 10.1590/0004-282X20150139.

Late cortical cerebellar atrophy, a form of hereditary cerebellar ataxia.

Am J Hum Genet. 1950 Mar;2(1):1-29.

Acute cerebellar ataxia after influenza vaccination with recurrence and marked cerebellar atrophy.

Tohoku J Exp Med. 1989 May;158(1):95-103. doi: 10.1620/tjem.158.95.

Comparison of cerebellar ataxias: A three-year prospective longitudinal assessment.

Mov Disord. 2011 Sep;26(11):2081-7. doi: 10.1002/mds.23809. Epub 2011 May 28.

引用本文的文献

Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report.

SAGE Open Med Case Rep. 2023 Jun 23;11:2050313X231181836. doi: 10.1177/2050313X231181836. eCollection 2023.

本文引用的文献

Argininic acid alters markers of cellular oxidative damage in vitro: Protective role of antioxidants.

Exp Toxicol Pathol. 2017 Oct 2;69(8):605-611. doi: 10.1016/j.etp.2017.05.007. Epub 2017 May 26.

Liver transplantation prevents progressive neurological impairment in argininemia.

JIMD Rep. 2013;11:25-30. doi: 10.1007/8904_2013_218. Epub 2013 Apr 5.

Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.

J Neuroimaging. 2014 Mar-Apr;24(2):155-60. doi: 10.1111/j.1552-6569.2012.00739.x. Epub 2012 Aug 28.

Acute hyperammonemic encephalopathy in adults: imaging findings.

AJNR Am J Neuroradiol. 2011 Feb;32(2):413-8. doi: 10.3174/ajnr.A2290. Epub 2010 Nov 18.

Hyperargininemia due to liver arginase deficiency.

Mol Genet Metab. 2005 Mar;84(3):243-51. doi: 10.1016/j.ymgme.2004.11.004. Epub 2004 Dec 19.

Hyperargininemia with arginase deficiency.

Pediatr Res. 1979 Jul;13(7):827-33. doi: 10.1203/00006450-197907000-00007.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy.

Ann Indian Acad Neurol. 2020 May-Jun;23(3):380-381. doi: 10.4103/aian.AIAN_130_19. Epub 2020 Jun 10.

Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.

J Neuroimaging. 2014 Mar-Apr;24(2):155-60. doi: 10.1111/j.1552-6569.2012.00739.x. Epub 2012 Aug 28.

Structural and functional MRI abnormalities of cerebellar cortex and nuclei in SCA3, SCA6 and Friedreich's ataxia.

Brain. 2015 May;138(Pt 5):1182-97. doi: 10.1093/brain/awv064. Epub 2015 Mar 28.

Impact of cerebellar atrophy on cortical gray matter and cerebellar peduncles as assessed by voxel-based morphometry and high angular resolution diffusion imaging.

Funct Neurol. 2016 Oct/Dec;31(4):239-248. doi: 10.11138/fneur/2016.31.4.239.

Neuroimaging findings in hyperargininemia.

J Neuroimaging. 2008 Oct;18(4):457-62. doi: 10.1111/j.1552-6569.2007.00217.x. Epub 2008 Jan 7.

Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.

Pediatr Neurol. 2016 Sep;62:58-61. doi: 10.1016/j.pediatrneurol.2016.03.020. Epub 2016 Jun 4.

Idiopathic very late-onset cerebellar ataxia: a Brazilian case series.

Arq Neuropsiquiatr. 2015 Nov;73(11):903-5. doi: 10.1590/0004-282X20150139.

Late cortical cerebellar atrophy, a form of hereditary cerebellar ataxia.

Am J Hum Genet. 1950 Mar;2(1):1-29.

Acute cerebellar ataxia after influenza vaccination with recurrence and marked cerebellar atrophy.

Tohoku J Exp Med. 1989 May;158(1):95-103. doi: 10.1620/tjem.158.95.

Comparison of cerebellar ataxias: A three-year prospective longitudinal assessment.

Mov Disord. 2011 Sep;26(11):2081-7. doi: 10.1002/mds.23809. Epub 2011 May 28.

引用本文的文献

Arginase deficiency with parotid gland swelling and hyperamylasemia: A case report.

SAGE Open Med Case Rep. 2023 Jun 23;11:2050313X231181836. doi: 10.1177/2050313X231181836. eCollection 2023.

本文引用的文献

Argininic acid alters markers of cellular oxidative damage in vitro: Protective role of antioxidants.

Exp Toxicol Pathol. 2017 Oct 2;69(8):605-611. doi: 10.1016/j.etp.2017.05.007. Epub 2017 May 26.

Liver transplantation prevents progressive neurological impairment in argininemia.

JIMD Rep. 2013;11:25-30. doi: 10.1007/8904_2013_218. Epub 2013 Apr 5.

Brain MRI and magnetic resonance spectroscopy findings in patients with hyperargininemia.

J Neuroimaging. 2014 Mar-Apr;24(2):155-60. doi: 10.1111/j.1552-6569.2012.00739.x. Epub 2012 Aug 28.

Acute hyperammonemic encephalopathy in adults: imaging findings.

AJNR Am J Neuroradiol. 2011 Feb;32(2):413-8. doi: 10.3174/ajnr.A2290. Epub 2010 Nov 18.

Hyperargininemia due to liver arginase deficiency.

Mol Genet Metab. 2005 Mar;84(3):243-51. doi: 10.1016/j.ymgme.2004.11.004. Epub 2004 Dec 19.

Hyperargininemia with arginase deficiency.

Pediatr Res. 1979 Jul;13(7):827-33. doi: 10.1203/00006450-197907000-00007.

Hyperargininemia Presenting as Intermittent Ataxia and Cerebellar Atrophy.

作者信息

机构信息

出版信息

相似文献

引用本文的文献

本文引用的文献

文献AI研究员

用中文搜PubMed

文档翻译

Suppr 超能文献

相似文献

引用本文的文献

本文引用的文献