Publication year
2012Source
Journal of Inherited Metabolic Disease, 35, 6, (2012), pp. 955-62ISSN
Publication type
Article / Letter to editor

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Organization
Paediatrics - OUD tm 2017
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. 62
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 4: Glycostation 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 imagingAbstract
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.
This item appears in the following Collection(s)
- Academic publications [227881]
- Faculty of Medical Sciences [86219]
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