Abstract
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.
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Acknowledgements
The authors thank the healthcare professionals involved, in the past and the present, for referring SLS patients to our research centre, thereby contributing to SLS research possibilities. We thank Dr. Ric C.H. de Vos, Wageningen University & Research Centre, Wageningen, The Netherlands, for performing plasma carotenoid analysis.
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Communicated by: Ertan Mayatepek
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Fuijkschot, J., Theelen, T., Seyger, M.M.B. et al. Sjögren–Larsson syndrome in clinical practice. J Inherit Metab Dis 35, 955–962 (2012). https://doi.org/10.1007/s10545-012-9518-6
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DOI: https://doi.org/10.1007/s10545-012-9518-6