Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.
J Inherit Metab Dis. 2012 Nov;35(6):955-62. doi: 10.1007/s10545-012-9518-6. Epub 2012 Jul 26.
This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjögren-Larsson syndrome (SLS) mainly based upon original research data of the authors in one of the world's largest clinical SLS study cohorts. Clinical features are discussed in order of appearance, and diagnostic tests are set out to guide the clinician toward the diagnosis SLS. Furthermore, current and future treatment strategies are discussed to render a comprehensive review of the topic.
这篇综述文章主要基于作者在世界上最大的 Sjögren-Larsson 综合征(SLS)临床研究队列之一的原创研究数据,概述了 SLS 当前的病理生理学概念。本文按照出现的顺序讨论了临床特征,并列出了诊断测试,以指导临床医生进行 SLS 的诊断。此外,还讨论了当前和未来的治疗策略,以全面回顾该主题。