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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...
| Autores principales: | , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2007
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| 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 |