Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Felisati, Giovanni, Salvatici, Elisabetta, Pipolo, Carlotta, Portaleone, Sara, Riva, Enrica, Giovannini, Marcello
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3342865/
https://www.ncbi.nlm.nih.gov/pubmed/22507244
http://dx.doi.org/10.1186/1752-1947-6-112