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引用本文的文献

1
Erratum: Adult-Onset Dystonia With Marfanoid Feature.勘误:具有类马凡氏特征的成人起病性肌张力障碍。
Neurol Clin Pract. 2021 Dec;11(6):981. doi: 10.1212/CPJ.0000000000000747.

本文引用的文献

1
Treatment of homocystinuria-related dystonia with deep brain stimulation: a case report.采用脑深部电刺激治疗同型胱氨酸尿症相关肌张力障碍:一例报告
Stereotact Funct Neurosurg. 2011;89(4):210-3. doi: 10.1159/000325703. Epub 2011 May 20.
2
Increased homocysteine in a patient diagnosed with Marfan syndrome.一名被诊断患有马凡综合征的患者体内同型半胱氨酸水平升高。
Clin Chem. 2010 Nov;56(11):1665-8. doi: 10.1373/clinchem.2010.147702.
3
Different phenotypy in three siblings with homocystinuria.
Neurologist. 2009 May;15(3):144-6. doi: 10.1097/NRL.0b013e318184a4c4.
4
Recurrent dystonia in homocystinuria: a metabolic pathogenesis.同型胱氨酸尿症中的复发性肌张力障碍:一种代谢性发病机制。
Mov Disord. 2006 Oct;21(10):1780-2. doi: 10.1002/mds.21045.
5
Homocystinuria--the effects of betaine in the treatment of patients not responsive to pyridoxine.同型胱氨酸尿症——甜菜碱对吡哆醇治疗无效患者的治疗效果
N Engl J Med. 1983 Aug 25;309(8):448-53. doi: 10.1056/NEJM198308253090802.
6
The natural history of homocystinuria due to cystathionine beta-synthase deficiency.由于胱硫醚β-合酶缺乏导致的同型胱氨酸尿症的自然病史。
Am J Hum Genet. 1985 Jan;37(1):1-31.
7
Dystonia in homocystinuria.同型胱氨酸尿症中的肌张力障碍。
J Neurol Neurosurg Psychiatry. 1988 Jun;51(6):859-62. doi: 10.1136/jnnp.51.6.859.

Adult-onset dystonia with marfanoid features.

作者信息

Norris Scott A, Pogarcic Anja, Hicks Matt, Perlmutter Joel S, Shinawi Marwan

机构信息

Departments of Neurology (SAN, AP, JSP), Radiology (MH, JSP), Neuroscience (JSP), Occupational Therapy (JSP), Physical Therapy (JSP), and Pediatrics (MS), and Division of Genetics and Genomic Medicine (MS), Washington University School of Medicine, St. Louis, MO.

出版信息

Neurol Clin Pract. 2017 Aug;7(4):e31-e34. doi: 10.1212/CPJ.0000000000000297.

DOI:10.1212/CPJ.0000000000000297
PMID:28840904
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5566795/
Abstract
摘要