Journal
JOURNAL OF INHERITED METABOLIC DISEASE
Volume 35, Issue 6, Pages 955-962Publisher
SPRINGER
DOI: 10.1007/s10545-012-9518-6
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This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjogren-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.
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