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Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1.

作者信息

Ulmanová Olga, Koens Lisette H, Jahnová Helena, de Vries Jeroen J, de Koning Tom J, Růžička Evžen, Tijssen Marina A J

机构信息

Department of Neurology and Center of Clinical Neuroscience, First Faculty of Medicine Charles University and General University Hospital in Prague Prague Czech Republic.

Department of Neurology University of Groningen, University Medical Center Groningen Groningen The Netherlands.

出版信息

Mov Disord Clin Pract. 2020 Sep 29;7(Suppl 3):S85-S88. doi: 10.1002/mdc3.13054. eCollection 2020 Sep.

DOI:10.1002/mdc3.13054
PMID:33015233
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7525196/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44d/7525196/e8cc989e5b78/MDC3-7-S85-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44d/7525196/4ebf67748c91/MDC3-7-S85-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44d/7525196/e8cc989e5b78/MDC3-7-S85-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44d/7525196/4ebf67748c91/MDC3-7-S85-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b44d/7525196/e8cc989e5b78/MDC3-7-S85-g002.jpg

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本文引用的文献

1
Atypical cerebral palsy: genomics analysis enables precision medicine.非典型性脑瘫：基因组学分析助力精准医疗。
Genet Med. 2019 Jul;21(7):1621-1628. doi: 10.1038/s41436-018-0376-y. Epub 2018 Dec 13.
2
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.晚发型I型戊二酸血症患者的纹状体外改变凸显了长期神经毒性的风险。
Orphanet J Rare Dis. 2017 Apr 24;12(1):77. doi: 10.1186/s13023-017-0612-6.
3
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
戊二酸血症I型患者诊断与管理的建议方案：第二次修订版
J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16.
4
Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.欧洲的新生儿筛查项目：关于协调统一的争论与努力——以有机酸尿症为重点
JIMD Rep. 2017;32:105-115. doi: 10.1007/8904_2016_537. Epub 2016 Jun 26.
5
Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review.表现为脑性瘫痪模拟症状的可治疗先天性代谢缺陷：系统文献综述
Orphanet J Rare Dis. 2014 Nov 30;9:197. doi: 10.1186/s13023-014-0197-2.
6
Diagnosis and management of glutaric aciduria type I--revised recommendations.Ⅰ 型戊二酸尿症的诊断和治疗——修订建议。
J Inherit Metab Dis. 2011 Jun;34(3):677-94. doi: 10.1007/s10545-011-9289-5. Epub 2011 Mar 23.
7
Movement disorders and inborn errors of metabolism in adults: a diagnostic approach.成人运动障碍与先天性代谢缺陷：一种诊断方法。
J Inherit Metab Dis. 2008 Jun;31(3):308-18. doi: 10.1007/s10545-008-0854-5. Epub 2008 May 30.
8
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency.戊二酰辅酶A脱氢酶缺乏症儿童和成人的自然病史、预后及治疗效果
Pediatr Res. 2006 Jun;59(6):840-7. doi: 10.1203/01.pdr.0000219387.79887.86. Epub 2006 Apr 26.
9
Glutaric aciduria; a "new" disorder of amino acid metabolism.戊二酸尿症；一种氨基酸代谢的“新”紊乱症。
Biochem Med. 1975 Jan;12(1):12-21. doi: 10.1016/0006-2944(75)90091-5.