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https://hdl.handle.net/1822/57938| Título: | Inner ear involvement in Fabry disease: Clinical and audiometric evaluation of a large cohort of patients followed in a reference centre |
| Autor(es): | Rodrigues, Jorge Azevedo, Olga Sousa, Nuno Cunha, Damião Mexedo, Alexandre Fonseca, Rui |
| Palavras-chave: | Adolescent 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 |
| Data: | Jun-2018 |
| Editora: | Elsevier |
| Revista: | European Journal of Medical Genetics |
| Citação: | Rodrigues, 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 |
| Resumo(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. |
| Tipo: | Artigo |
| URI: | https://hdl.handle.net/1822/57938 |
| DOI: | 10.1016/j.ejmg.2018.01.006 |
| ISSN: | 1769-7212 |
| Versão da editora: | https://www.sciencedirect.com/science/article/pii/S1769721217305748 |
| Arbitragem científica: | yes |
| Acesso: | Acesso aberto |
| Aparece nas coleções: |
Ficheiros deste registo:
| Ficheiro | Descrição | Tamanho | Formato | |
|---|---|---|---|---|
| rodrigues2018 vCT.pdf Acesso restrito! | 975,12 kB | Adobe PDF | Ver/Abrir |
