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Nervous system and Fabry disease, from symptoms to diagnosis: damage evaluation and follow-up in adult patients, enzyme replacement, and support therapy

The X-linked genetic Fabry disease causes multiorgan lesions due to intracellular storage of the substrate globotriaosylceramide. Neurological involvement ranges from painful, small fiber neuropathy to cerebrovascular disorders to multifocal aggressive forms. Disease identification through proper di...

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Detalles Bibliográficos
Autores principales: Salviati, Alessandro, Burlina, Alessandro P., Borsini, Walter
Formato: Texto
Lenguaje:English
Publicado: Springer Milan 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869001/
https://www.ncbi.nlm.nih.gov/pubmed/20300794
http://dx.doi.org/10.1007/s10072-009-0211-y