A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

Baldovino, Simone; Sciascia, Savino; Carta, Claudio; Salvatore, Marco; Cellai, Laura L.; Ferrari, Gianluca; Lumaka, Aime; Groft, Stephen; Alanay, Yasemin; Azam, Maleeha; Baynam, Gareth; Cederroth, Helene; la Paz, Eva Maria Cutiongco\\-de; Dissanayake, Vajira Harshadeva Weerabaddana; Giugliani, Roberto; Gonzaga\\-Jauregui, Claudia; Hettiarachchi, Dineshani; Kvlividze, Oleg; Landoure, Guida; Makay, Prince; Melegh, Bela; Ozbek, Ugur; Pagava, Karaman; Puri, Ratna Dua; Romero, Vaness I.; Scaria, Vinod; Jamuar, Saumya S.; Shotelersuk, Vorasuk; Roccatello, Dario; Gahl, William A.; Wiafe, Samuel A.; Bodamer, Olaf; Posada, Manuel; Taruscio, Domenica

doi:10.3389/fpubh.2025.1510818

A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

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A global survey about undiagnosed rare diseases perspectives, challenges, and solutions.pdf (756.13 KB)

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2025

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10.3389/fpubh.2025.1510818

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WOS:001445380800001

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FRONTIERS MEDIA SA

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10.3389/fpubh.2025.1510818

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healthcare disparities , undiagnosed rare diseases \\(URDs\\) , people living with URDs \\(PLURDs\\) , diagnostic journey , advocacy groups , genomic diagnosis

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https://openaccess.acibadem.edu.tr/handle/11443/5189

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A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions

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