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

      Giugliani, Roberto; Taucher, Silvia Castillo; Hafez, Sylvia; Oliveira, João Bosco; Restrepo, Mariana Rico; Rozenfeld, Paula; Zarante, Ignacio; Gonzaga-Jauregui, Claudia (2022) [Artigo de periódico]
      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, ...