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

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

<p>Abstract</p> <p>Background</p> <p>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 glycosphin...

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Bibliographic Details
Main Authors: Chassaing Augustin, Avan Paul, Germain Dominique P, Bonfils Pierre
Format: Article
Language:English
Published: BMC 2002-10-01
Series:BMC Medical Genetics
Online Access:http://www.biomedcentral.com/1471-2350/3/10

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