Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients

Authors:	Email author" target="_blank">Dominique?P?Germain Email author Paul?Avan Augustin?Chassaing Pierre?Bonfils

Institution:	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

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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