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Neonatal and carrier screening for rare diseases: how innovation challenges screening criteria worldwide

Screening for rare diseases first began more than 50 years ago with neonatal bloodspot screening (NBS) for phenylketonuria, and carrier screening for Tay-Sachs disease, sickle cell anaemia and β-thalassaemia. NBS’s primary aim is health gain for children, while carrier screening enables autonomous r...

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Detalhes bibliográficos
Publicado no:J Community Genet
Main Authors: Cornel, Martina C., Rigter, Tessel, Jansen, Marleen E., Henneman, Lidewij
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8141077/
https://ncbi.nlm.nih.gov/pubmed/33074550
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-020-00488-y
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