Article
Prevalence of GLA gene mutations and polymorphisms in patients with multiple sclerosis: A cross-sectional study.
Journal of the neurological sciences - 15 May 2020
Russo Camilla, Cocozza Sirio, Riccio Eleonora, Pontillo Giuseppe, Petruzzelli Luigi Annicchiarico, Lanzillo Roberta, Spinelli Letizia, Colomba Paolo, Duro Giovanni, Imbriaco Massimo, Russo Cinzia Valeria, De Riso Giulia, Di Risi Teodolinda, Tedeschi Enrico, Cuocolo Alberto, Brunetti Arturo, Morra Vincenzo Brescia, Cocozza Sergio, Pisani Antonio
Abstract excerpt
PURPOSE: Fabry Disease (FD) has been frequently proposed as possible underestimated differential diagnosis of Multiple Sclerosis (MS), but no study has been performed to test prevalence of GLA gene mutations in a population fulfilling diagnostic criteria of MS. Aim of this study is to determine the prevalence of GLA gene mutations in a large and representative population diagnosed with MS, simultaneously...
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