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Genetic variants associated with gastrointestinal symptoms in Fabry disease

Gastrointestinal symptoms (GIS) are often among the earliest presenting events in Fabry disease (FD), an X-linked lysosomal disorder caused by the deficiency of α-galactosidase A. Despite recent advances in clinical and molecular characterization of FD, the pathophysiology of the GIS is still poorly...

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Detalles Bibliográficos
Autores principales: Di Martino, Maria Teresa, Scionti, Francesca, Sestito, Simona, Nicoletti, Angela, Arbitrio, Mariamena, Guzzi, Pietro Hiram, Talarico, Valentina, Altomare, Federica, Sanseviero, Maria Teresa, Agapito, Giuseppe, Pisani, Antonio, Riccio, Eleonora, Borrelli, Osvaldo, Concolino, Daniela, Pensabene, Licia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5349883/
https://www.ncbi.nlm.nih.gov/pubmed/27825144
http://dx.doi.org/10.18632/oncotarget.13135