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Sjögren–Larsson syndrome in clinical practice
Author(s) -
Fuijkschot Joris,
Theelen Thomas,
Seyger Marieke M. B.,
Graaf Marinette,
Groot Imelda J. M.,
Wevers Ron A.,
Wanders Ronald J. A.,
Waterham Hans R.,
Willemsen Michèl A. A. P.
Publication year - 2012
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-012-9518-6
Subject(s) - clinical practice , medicine , medline , intensive care medicine , medical physics , pediatrics , physical therapy , biology , biochemistry
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.