Sjögren-Larsson syndrome in clinical practice.

Joris Fuijkschot, Thomas Theelen, Marieke M B Seyger, Marinette van der Graaf, Imelda J M de Groot, Ron A Wevers, Ronald J A Wanders, Hans R Waterham, Michèl A A P Willemsen

Journal: Journal of inherited metabolic disease 2013;35(6):955-62

PMID: 22833178

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Abstract

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.

Address: Department of Pediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands. [email protected]

DOI: 10.1007/s10545-012-9518-6

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https://doi.org/10.1007/s10545-012-9518-6

MeSH Terms: Aldehyde Oxidoreductases, Bezafibrate, Brain, Carotenoids, Eye, Female, Genetic Therapy, Humans, Infant, Newborn, Male, Mutation, Pregnancy, Premature Birth, Sjogren-Larsson Syndrome, Skin