Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America

Rare diseases (RDs) cause considerable death and disability in Latin America. Still, there is no consensus on their definition across the region. Patients with RDs face a diagnostic odyssey to find a correct diagnosis, which may last many years and creates a burden for caregivers, healthcare systems...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Giugliani, Roberto, Castillo Taucher, Silvia, Hafez, Sylvia, Bosco Oliveira, Joao, Rico Restrepo, Mariana, Rozenfeld, Paula Adriana, Zarante, Ignacio, Gonzaga Jauregui, Claudia
Formato: Articulo
Lenguaje:Inglés
Publicado: 2022
Materias:
Ciencias Médicas
newborn screening
early diagnosis
rare diseases
diagnostic odyssey
Latin America
genetics
genomics
molecular diagnosis
Acceso en línea:http://sedici.unlp.edu.ar/handle/10915/156917
Aporte de:
SEDICI (UNLP) de Universidad Nacional de La Plata

Ejemplares similares

Ejemplares similares