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Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses

In 2012, the Norwegian newborn screening program (NBS) was expanded (eNBS) from screening for two diseases to that for 23 diseases (20 inborn errors of metabolism, IEMs) and again in 2018, to include a total of 25 conditions (21 IEMs). Between 1 March 2012 and 29 February 2020, 461,369 newborns were...

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Detalles Bibliográficos
Autores principales: Tangeraas, Trine, Sæves, Ingjerd, Klingenberg, Claus, Jørgensen, Jens, Kristensen, Erle, Gunnarsdottir, Gunnþórunn, Hansen, Eirik Vangsøy, Strand, Janne, Lundman, Emma, Ferdinandusse, Sacha, Salvador, Cathrin Lytomt, Woldseth, Berit, Bliksrud, Yngve T., Sagredo, Carlos, Olsen, Øyvind E., Berge, Mona C., Trømborg, Anette Kjoshagen, Ziegler, Anders, Zhang, Jin Hui, Sørgjerd, Linda Karlsen, Ytre-Arne, Mari, Hogner, Silje, Løvoll, Siv M., Kløvstad Olavsen, Mette R., Navarrete, Dionne, Gaup, Hege J., Lilje, Rina, Zetterström, Rolf H., Stray-Pedersen, Asbjørg, Rootwelt, Terje, Rinaldo, Piero, Rowe, Alexander D., Pettersen, Rolf D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7570219/
https://www.ncbi.nlm.nih.gov/pubmed/33123633
http://dx.doi.org/10.3390/ijns6030051