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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...
Autores principales: | Mignani, Renzo, Preda, Paola, Granata, Antonio, Maldini, Laura, De Giovanni, Paola, Montevecchi, Marcello, Rigotti, Angelo, Cagnoli, Leonardo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2009
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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 |
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