Article
Genetic variants associated with gastrointestinal symptoms in Fabry disease.
Oncotarget - 27 Dec 2016
Di Martino Maria Teresa, Scionti Francesca, Sestito Simona, Nicoletti Angela, Arbitrio Mariamena, Hiram Guzzi Pietro, Talarico Valentina, Altomare Federica, Sanseviero Maria Teresa, Agapito Giuseppe, Pisani Antonio, Riccio Eleonora, Borrelli Osvaldo, Concolino Daniela, Pensabene Licia
Abstract excerpt
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 understood. To shed light either on differential clinical presentation or on intervariability of GIS in FD, we...
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