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Fabry disease presenting with sudden hearing loss and otosclerosis: a case report

INTRODUCTION: Fabry disease is an X-linked lysosomal storage disorder resulting in a multiple-system disorder with a wide spectrum of physical signs and symptoms, predominantly affecting the central and peripheral nervous systems, skin, heart, kidneys, and eyes. CASE PRESENTATION: We describe the ca...

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Detalhes bibliográficos
Main Authors: Felisati, Giovanni, Salvatici, Elisabetta, Pipolo, Carlotta, Portaleone, Sara, Riva, Enrica, Giovannini, Marcello
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3342865/
https://ncbi.nlm.nih.gov/pubmed/22507244
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1752-1947-6-112
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