Improving diagnosis for rare diseases: the experience of the Italian undiagnosed Rare diseases network

• Main Authors: Marco Salvatore (Author), Agata Polizzi (Author), Maria Chiara De Stefano (Author), Giovanna Floridia (Author), Simone Baldovino (Author), Dario Roccatello (Author), Savino Sciascia (Author), Elisa Menegatti (Author), Giuseppe Remuzzi (Author), Erica Daina (Author), Paraskevas Iatropoulos (Author), Bruno Bembi (Author), Rosalia Maria Da Riol (Author), Alessandra Ferlini (Author), Marcella Neri (Author), Giuseppe Novelli (Author), Federica Sangiuolo (Author), Francesco Brancati (Author), Domenica Taruscio (Author)
• Format: Book
• Published: BMC, 2020-09-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background For a number of persons with rare diseases (RDs) a definite diagnosis remains undiscovered with relevant physical, psychological and social consequences. Undiagnosed RDs (URDs) require other than specialised clinical centres, outstanding molecular investigations, common protocols...