Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients |
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| Authors: | Dominique?P?Germain mailto:dominique.germain@hop.egp.ap-hop-paris.fr" title=" dominique.germain@hop.egp.ap-hop-paris.fr" itemprop=" email" data-track=" click" data-track-action=" Email author" data-track-label=" " >Email author,Paul?Avan,Augustin?Chassaing,Pierre?Bonfils |
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| Affiliation: | 1.Department of Genetics,H?pital Européen Georges Pompidou,Paris,France;2.Auditory Research Laboratory. Faculté de Médecine,Université d'Auvergne,Clermont-Ferrand,France;3.Auditory Research Laboratory, Formation Associée Claude Bernard and CNRS UPRESSA 7060,H?pital Européen Georges Pompidou,Paris,France |
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| Abstract: | ![]()
Background Fabry disease (FD, OMIM 301500) is an X-linked inborn error of glycosphingolipid metabolism due to the deficient activity of alpha-galactosidase A, a lysosomal enzyme. While the progressive systemic deposition of uncleaved glycosphingolipids throughout the body is known to have protean clinical manifestations, few data are available regarding the cochlear involvement. |
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