Sjogren-Larsson syndrome in clinical practice

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Title:	Sjogren-Larsson syndrome in clinical practice
Author(s):	Fuijkschot, J.; Theelen, T. ; Seijger, M.M. ; Graaf, M. van der ; Groot, I.M. de ; Wevers, R.A. ; Wanders, R.J.; Waterham, H.R.; Willemsen, M.A.A.P.
Publication year:	2012
Source:	Journal of Inherited Metabolic Disease, vol. 35, iss. 6, (2012), pp. 955-962
ISSN:	0141-8955
DOI:	https://doi.org/10.1007/s10545-012-9518-6
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/109546
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Subject:	DCN MP - Plasticity and memory DCN NN - Brain networks and neuronal communication DCN PAC - Perception action and control IGMD 4: Glycostation disorders IGMD 1: Functional imaging IGMD 3: Genomic disorders and inherited multi-system disorders IGMD 5: Health aging / healthy living NCEBP 14: Cardiovascular diseases N4i 4: Auto-immunity, transplantation and immunotherapy NCEBP 10: Human Movement & Fatigue DCN PAC - Perception action and control NCEBP 2: Evaluation of complex medical interventions IGMD 1: Functional imaging
Organization:	Paediatrics Ophthalmology Dermatology Internal Medicine Radiology Rehabilitation Neurology Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal title:	Journal of Inherited Metabolic Disease
Volume:	vol. 35
Issue:	iss. 6
Page start:	p. 955
Page end:	p. 962
Abstract:	This review article gives a state-of-the-art synopsis of current pathophysiological concepts in Sjogren-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.