Farber disease: clinical presentation, pathogenesis and a new approach to treatment

BACKGROUND: Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes. Children with significant neurological involvement usually die early in infancy, whereas patients without or only mild n...

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Detalles Bibliográficos
Autores principales: Ehlert, Karoline, Frosch, Michael, Fehse, Natalja, Zander, Axel, Roth, Johannes, Vormoor, Josef
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2007
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1920510/
https://www.ncbi.nlm.nih.gov/pubmed/17603888
http://dx.doi.org/10.1186/1546-0096-5-15

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1920510/
https://www.ncbi.nlm.nih.gov/pubmed/17603888
http://dx.doi.org/10.1186/1546-0096-5-15

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