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结节性硬化症:婴儿的早期诊断

Tuberous Sclerosis Complex: Early Diagnosis in Infants.

作者信息

Nelson Stephen L, Wild Brittani M

机构信息

Departments of Pediatrics and Neurology, Tulane University School of Medicine, New Orleans, LA.

出版信息

Pediatr Neurol Briefs. 2018 Oct 17;32:12. doi: 10.15844/pedneurbriefs-32-12.

Abstract

Investigators from the Tuberous Sclerosis Complex (TSC) Autism Center of Excellence Research conducted two concurrent prospective longitudinal studies to analyze the timing and pattern of clinical presenting symptoms of TSC in infants to facilitate earlier diagnosis and treatment in this specific population.

摘要

结节性硬化症(TSC)卓越研究自闭症中心的研究人员开展了两项同期前瞻性纵向研究,以分析婴儿TSC临床症状出现的时间和模式,以便在这一特定人群中实现更早的诊断和治疗。

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本文引用的文献

1
Refractory epilepsy in preschool children with tuberous sclerosis complex: Early surgical treatment and outcome.
Seizure. 2018 Aug;60:71-79. doi: 10.1016/j.seizure.2018.06.005. Epub 2018 Jun 18.
2
Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?
Orphanet J Rare Dis. 2018 Jan 29;13(1):25. doi: 10.1186/s13023-018-0764-z.
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Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants.
Pediatrics. 2017 Dec;140(6). doi: 10.1542/peds.2016-4040. Epub 2017 Nov 3.
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Early Detection of Tuberous Sclerosis Complex: An Opportunity for Improved Neurodevelopmental Outcome.
Pediatr Neurol. 2017 Nov;76:20-26. doi: 10.1016/j.pediatrneurol.2017.05.014. Epub 2017 May 26.
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Vagus nerve stimulation for refractory epilepsy in tuberous sclerosis.
Pediatr Neurol. 2010 Jul;43(1):29-34. doi: 10.1016/j.pediatrneurol.2010.03.003.

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