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

• Main Authors: Chassaing Augustin (Author), Avan Paul (Author), Germain Dominique P (Author), Bonfils Pierre (Author)
• Formato: Livro
• Publicado em: BMC, 2002-10-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: 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...