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

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 c...

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Detalles Bibliográficos
Autores principales: Germain, Dominique P, Avan, Paul, Chassaing, Augustin, Bonfils, Pierre
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2002
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC134464/
https://www.ncbi.nlm.nih.gov/pubmed/12377100
http://dx.doi.org/10.1186/1471-2350-3-10

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC134464/
https://www.ncbi.nlm.nih.gov/pubmed/12377100
http://dx.doi.org/10.1186/1471-2350-3-10

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