The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism

The expansion of the recommend uniform screening panel to include more than 50 primary and secondary target conditions has resulted in a substantial increase of false positive results. As an alternative to subjective manipulation of cutoff values and overutilization of molecular testing, here we des...

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Detalles Bibliográficos
Autores principales: Gavrilov, Dimitar K., Piazza, Amy L., Pino, Gisele, Turgeon, Coleman, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Rinaldo, Piero
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423003/
https://www.ncbi.nlm.nih.gov/pubmed/33073028
http://dx.doi.org/10.3390/ijns6020033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7423003/
https://www.ncbi.nlm.nih.gov/pubmed/33073028
http://dx.doi.org/10.3390/ijns6020033

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