Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease

BACKGROUND: We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history. CASE PRESENTATION: At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis. At the age of 35, he was referred to our hospital...

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Detalles Bibliográficos
Autores principales: Pisani, Antonio, Daniele, Aurora, Di Domenico, Carmela, Nigro, Ersilia, Salvatore, Francesco, Riccio, Eleonora
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4658750/
https://www.ncbi.nlm.nih.gov/pubmed/26602202
http://dx.doi.org/10.1186/s13104-015-1696-5

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