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Sjogren-Larsson syndrome: A rare neurocutaneous disorder

Sjogren-Larsson syndrome is an autosomal recessive disorder characterized by defective activity of fatty aldehyde dehydrogenase. It presents as a triad of congenital ichthyosis, spastic diplegia, and mental retardation. The pathology behind this syndrome is the failure of degradation of fatty aldehy...

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Podrobná bibliografie
Vydáno v:J Pediatr Neurosci
Hlavní autoři: Subramanian, Velusamy, Hariharan, Praveen, Balaji, J.
Médium: Artigo
Jazyk:Inglês
Vydáno: Medknow Publications & Media Pvt Ltd 2016
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4862294/
https://ncbi.nlm.nih.gov/pubmed/27195039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/1817-1745.181267
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