Document Detail


Sjogren-larsson syndrome.
MedLine Citation:
PMID:  22411255     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
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.
Authors:
Lívia Almeida Dutra; Pedro Braga-Neto; José Luiz Pedroso; Orlando Graziani Povoas Barsottini
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Advances in experimental medicine and biology     Volume:  724     ISSN:  0065-2598     ISO Abbreviation:  Adv. Exp. Med. Biol.     Publication Date:  2012  
Date Detail:
Created Date:  2012-03-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0121103     Medline TA:  Adv Exp Med Biol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  344-50     Citation Subset:  IM    
Affiliation:
Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo, Brazil, liviaadutra@hotmail.com.
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