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A IMPORTÂNCIA DO TESTE DO PEZINHO NA PREVENÇÃO DE DOENÇAS GENÉTICAS RARAS

Doi: 10.47094/978-65-6036-386-1/11-27

PALAVRAS CHAVE: Doenças e anormalidades congênitas hereditárias e neonatais. Doenças raras. Triagem neonatal.

KEYWORDS: Hereditary and neonatal congenital diseases and abnormalities. Rare diseases. Neonatal screening.

ABSTRACT:
By diagnosing these diseases in the first days of life, it is possible to start pecific treatments. In addition, heel prick testing improves the quality of life of diagnosed children. From this context, the following question arose: What are the impacts of heel prick testing on the prevention and early treatment of rare genetic diseases in newborns? The general objective of this study is to investigate the importance of heel prick testing in the prevention and early treatment of rare genetic diseases in newborns.

Autores

  • Erika Castro Morais

  • José Raphael Gomes da Silva

  • Lívia Bezerra Lemos

  • Mayara de Nazaré Moreira Rodrigues

  • Mirian Gonçalves Nunes

  • Ottomá Gonçalves da Silva

  • Raiane Silva Dos Passos

  • Tiago Dias de Almeida

  • Yzaura Lohanny Lima da Silva

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