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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...
Uloženo v:
| Vydáno v: | J Pediatr Neurosci |
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| Hlavní autoři: | , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Medknow Publications & Media Pvt Ltd
2016
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| 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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