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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 6/2012

01-11-2012 | Metabolic Dissertation

Sjögren–Larsson syndrome in clinical practice

Authors: Joris Fuijkschot, Thomas Theelen, Marieke M. B. Seyger, Marinette van der Graaf, Imelda J. M. de Groot, Ron A. Wevers, Ronald J. A. Wanders, Hans R. Waterham, Michèl A. A. P. Willemsen

Published in: Journal of Inherited Metabolic Disease | Issue 6/2012

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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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Metadata
Title
Sjögren–Larsson syndrome in clinical practice
Authors
Joris Fuijkschot
Thomas Theelen
Marieke M. B. Seyger
Marinette van der Graaf
Imelda J. M. de Groot
Ron A. Wevers
Ronald J. A. Wanders
Hans R. Waterham
Michèl A. A. P. Willemsen
Publication date
01-11-2012
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 6/2012
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-012-9518-6

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