• Rare diseases in Uruguay : focus on infants with abnormal newborn screening 

      Prieto, Mariela Larrandaburu; Vianna, Fernanda Sales Luiz; Griot, Karina; Queijo, Cecilia; Monzón, Gabriela; Ugarte, Cecilia; Nacul, Luis; Faccini, Lavinia Schuler; Sanseverino, Maria Teresa Vieira (2019) [Artículo de periódico]
      Introduction: Newborn Screening Program (NBS) in Uruguay includes congenital hypothyroidism (CHT), phenylketonuria (PKU), congenital adrenal hyperplasia (CAH), cystic fibrosis (CF), medium chain acyl-CoA dehydrogenase ...