Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene

BACKGROUND: Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less...

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Detalles Bibliográficos
Autores principales: Lukas, Jan, Torras, Joan, Navarro, Itziar, Giese, Anne-Katrin, Böttcher, Tobias, Mascher, Hermann, Lackner, Karl J., Fauler, Guenter, Paschke, Eduard, Cruzado, Josep M., Dudesek, Ales, Wittstock, Matthias, Meyer, Wolfgang, Rolfs, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432423/
https://www.ncbi.nlm.nih.gov/pubmed/26019814
http://dx.doi.org/10.1093/ckj/sfs115

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