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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2012
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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 |