| Sjogren-larsson syndrome. | |
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MedLine Citation:
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PMID: 22411255 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Sjogren-Larsson syndrome is a rare disease characterized by the occurrence of mental retardation, spastic diplegia and ichthyosis. The involvement of brain and skin is justified by a mutation in FALDH gene that affects the metabolism of fatty acids and leads to abnormal accumulation of lipids. The normal formation of multilamellar membranes in the stratum corneum and myelin is impaired. The aim of this chapter is to review the classical manifestation of the disease and its differential diagnosis. |
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Authors:
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Lívia Almeida Dutra; Pedro Braga-Neto; José Luiz Pedroso; Orlando Graziani Povoas Barsottini |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Advances in experimental medicine and biology Volume: 724 ISSN: 0065-2598 ISO Abbreviation: Adv. Exp. Med. Biol. Publication Date: 2012 |
Date Detail:
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Created Date: 2012-03-13 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0121103 Medline TA: Adv Exp Med Biol Country: United States |
Other Details:
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Languages: eng Pagination: 344-50 Citation Subset: IM |
Affiliation:
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Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil, liviaadutra@hotmail.com. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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