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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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Detalles Bibliográficos
Autores principales:	Cornel, Martina C., Rigter, Tessel, Jansen, Marleen E., Henneman, Lidewij
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer Berlin Heidelberg 2020
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8141077/ https://www.ncbi.nlm.nih.gov/pubmed/33074550 http://dx.doi.org/10.1007/s12687-020-00488-y

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