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Recommendations from the IRDiRC Working Group on methodologies to assess the impact of diagnoses and therapies on rare disease patients

Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of diseases, which in return positively impacts patients, families and health care systems. The In...

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Detalles Bibliográficos
Autores principales: Zanello, Galliano, Chan, Chun-Hung, Pearce, David A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9078009/
https://www.ncbi.nlm.nih.gov/pubmed/35526001
http://dx.doi.org/10.1186/s13023-022-02337-2