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Sjögren–Larsson syndrome in clinical practice

  • Metabolic Dissertation
  • Published:
Journal of Inherited Metabolic Disease

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.

Conflict of interest

None.

Author information

Authors and Affiliations

  1. Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands

    Joris Fuijkschot & Marinette van der Graaf

  2. Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands

    Thomas Theelen

  3. Department of Dermatology, Radboud University Medical Centre, Nijmegen, The Netherlands

    Marieke M. B. Seyger

  4. Department of Radiology, Radboud University Medical Centre, Nijmegen, The Netherlands

    Marinette van der Graaf

  5. Department of Rehabilitation, Radboud University Medical Centre, Nijmegen, The Netherlands

    Imelda J. M. de Groot

  6. Department of Laboratory Medicine—Laboratory of Genetic Endocine and Metabolic Diseases, Radboud University Medical Centre, Nijmegen, The Netherlands

    Ron A. Wevers

  7. Department of Pediatric Neurology, Radboud University Medical Centre, Nijmegen, The Netherlands

    Michèl A. A. P. Willemsen

  8. Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands

    Ronald J. A. Wanders & Hans R. Waterham

Authors
  1. Joris Fuijkschot
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  2. Thomas Theelen
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  3. Marieke M. B. Seyger
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  4. Marinette van der Graaf
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  5. Imelda J. M. de Groot
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  6. Ron A. Wevers
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  7. Ronald J. A. Wanders
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  8. Hans R. Waterham
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  9. Michèl A. A. P. Willemsen
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Corresponding author

Correspondence to Joris Fuijkschot.

Additional information

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

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