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.
MeSH terms
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Aldehyde Oxidoreductases / deficiency
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Aldehyde Oxidoreductases / genetics
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Bezafibrate / therapeutic use
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Brain / pathology
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Brain / physiopathology
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Carotenoids / therapeutic use
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Eye / pathology
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Female
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Genetic Therapy
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Humans
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Infant, Newborn
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Male
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Mutation
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Pregnancy
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Premature Birth
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Sjogren-Larsson Syndrome* / diagnosis
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Sjogren-Larsson Syndrome* / genetics
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Sjogren-Larsson Syndrome* / physiopathology
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Sjogren-Larsson Syndrome* / therapy
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Skin / pathology
Substances
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Carotenoids
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Aldehyde Oxidoreductases
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long-chain-aldehyde dehydrogenase
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Bezafibrate