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Combined Dystonia With Self-Mutilation in 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency: A Case Report.

作者信息

Latorre Anna, Salgado Paula, Salari Mehri, Jesuthasan Aaron, Bhatia Kailash P

机构信息

Sobell Department of Motor Neuroscience and Movement Disorders University College London (UCL) Institute of Neurology London United Kingdom.

Department of Human Neurosciences Sapienza University of Rome Rome Italy.

出版信息

Mov Disord Clin Pract. 2018 Nov 8;6(1):81-82. doi: 10.1002/mdc3.12698. eCollection 2019 Jan.

Abstract
摘要

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本文引用的文献

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Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico.
Brain Dev. 2018 Aug;40(7):530-536. doi: 10.1016/j.braindev.2018.03.014. Epub 2018 Apr 21.
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Lesch-Nyhan Syndrome: Disorder of Self-mutilating Behavior.
Int J Clin Pediatr Dent. 2016 Apr-Jun;9(2):139-42. doi: 10.5005/jp-journals-10005-1350. Epub 2016 Jun 15.
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Quetiapine treatment for self-mutilation in chorea-acanthocytosis: a case report.
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