A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy

Female patients affected by Fabry disease, an X-linked lysosomal storage disorder, exhibit a wide spectrum of symptoms, which renders diagnosis, and treatment decisions challenging. No diagnostic test, other than sequencing of the alpha-galactosidase A gene, is available and no biomarker has been pr...

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Detalles Bibliográficos
Autores principales: Kistler, Andreas D., Siwy, Justyna, Breunig, Frank, Jeevaratnam, Praveen, Scherl, Alexander, Mullen, William, Warnock, David G., Wanner, Christoph, Hughes, Derralynn A., Mischak, Harald, Wüthrich, Rudolf P., Serra, Andreas L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3115947/
https://www.ncbi.nlm.nih.gov/pubmed/21698285
http://dx.doi.org/10.1371/journal.pone.0020534

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