Sjogren-Larsson syndrome in clinical practice
SourceJournal of Inherited Metabolic Disease, 35, 6, (2012), pp. 955-962
Article / Letter to editor
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Paediatrics - OUD tm 2017
Laboratory of Genetic, Endocrine and Metabolic Diseases
Journal of Inherited Metabolic Disease
SubjectDCN 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
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.
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