Please use this identifier to cite or link to this item: http://hdl.handle.net/1822/57938

TitleInner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre
Author(s)Rodrigues, Jorge
Azevedo, Olga
Sousa, Nuno
Cunha, Damião
Mexedo, Alexandre
Fonseca, Rui
KeywordsAdolescent
Adult
Aged
Aged, 80 and over
Albuminuria
Audiometry, Pure-Tone
Child
Cohort Studies
Enzyme Replacement Therapy
Fabry Disease
Female
Hearing Loss, Sensorineural
Humans
Male
Middle Aged
Tinnitus
Young Adult
alpha-Galactosidase
Inner ear
Hearing loss
Issue dateJun-2018
PublisherElsevier
JournalEuropean Journal of Medical Genetics
CitationRodrigues, J., Azevedo, O., Sousa, N., Cunha, D., Mexedo, A., & Fonseca, R. (2018). Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre. European journal of medical genetics, 61(6), 341-347
Abstract(s)Fabry disease (FD) is a lysosomal storage disorder (LSD) that involves the cochleovestibular system. Tinnitus and progressive sensorineural hearing loss are frequent complains. A stabilization of hearing function has been reported with enzyme replacement therapy (ERT). This study aims to characterize the inner ear involvement, identify factors associated to hearing loss and evaluate the effect of ERT on the hearing function of FD patients.
TypeArticle
URIhttp://hdl.handle.net/1822/57938
DOI10.1016/j.ejmg.2018.01.006
ISSN1769-7212
Publisher versionhttps://www.sciencedirect.com/science/article/pii/S1769721217305748
Peer-Reviewedyes
AccessEmbargoed access (1 Year)
Appears in Collections:ICVS - Artigos em Revistas Internacionais com Referee

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