Lataa...

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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Pediatr Neurosci
Päätekijät: Subramanian, Velusamy, Hariharan, Praveen, Balaji, J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Medknow Publications & Media Pvt Ltd 2016
Aiheet:
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!