Article
Sjögren-Larsson syndrome in clinical practice.
Journal of inherited metabolic disease - 1 Nov 2012
Fuijkschot Joris, Theelen Thomas, Seyger Marieke M B, van der Graaf Marinette, de Groot Imelda J M, Wevers Ron A, Wanders Ronald J A, Waterham Hans R, Willemsen Michèl A A P
Abstract excerpt
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...
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