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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
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...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2002
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| 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 |