Cargando…

Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female

Fabry disease (FD) is a rare X-linked disorder characterized by low or absent activity of the lysosomal enzyme α-glycosidase-A that leads to progressive accumulation of glycosphingolipids in different organs and tissues. Clinical manifestations vary from classic to atypical forms characterized by on...

Descripción completa

Detalles Bibliográficos
Autores principales: Mignani, Renzo, Preda, Paola, Granata, Antonio, Maldini, Laura, De Giovanni, Paola, Montevecchi, Marcello, Rigotti, Angelo, Cagnoli, Leonardo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421328/
https://www.ncbi.nlm.nih.gov/pubmed/25949379
http://dx.doi.org/10.1093/ndtplus/sfp104