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

• Váldodahkkit: Chassaing Augustin (Dahkki), Avan Paul (Dahkki), Germain Dominique P (Dahkki), Bonfils Pierre (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: BMC, 2002-10-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

<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...