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

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

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...

Full description

Bibliographic Details
Main Authors: Marco Salvatore, Agata Polizzi, Maria Chiara De Stefano, Giovanna Floridia, Simone Baldovino, Dario Roccatello, Savino Sciascia, Elisa Menegatti, Giuseppe Remuzzi, Erica Daina, Paraskevas Iatropoulos, Bruno Bembi, Rosalia Maria Da Riol, Alessandra Ferlini, Marcella Neri, Giuseppe Novelli, Federica Sangiuolo, Francesco Brancati, Domenica Taruscio
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Italian Journal of Pediatrics
Subjects:
Undiagnosed
Rare diseases
Omics
Ontology
Diagnosis
Online Access:http://link.springer.com/article/10.1186/s13052-020-00883-8

Internet

http://link.springer.com/article/10.1186/s13052-020-00883-8

Similar Items