Ichthyosis in Sjögren–Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion

Sjögren–Larsson syndrome is a genetic disease characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene coding for fatty aldehyde dehydrogenase, an enzyme necessary for oxidation of fatty aldehydes and fatty alcohols. We investigated the cutaneous abnormalities in...

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Detalles Bibliográficos
Autores principales: Rizzo, William B., S’Aulis, Dana, Jennings, M. Anitia, Crumrine, Debra A., Williams, Mary L., Elias, Peter M.
Formato: Texto
Lenguaje:English
Publicado: Springer-Verlag 2010
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892059/
https://www.ncbi.nlm.nih.gov/pubmed/20049467
http://dx.doi.org/10.1007/s00403-009-1022-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2892059/
https://www.ncbi.nlm.nih.gov/pubmed/20049467
http://dx.doi.org/10.1007/s00403-009-1022-y

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