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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...
Autores principales: | Gavrilov, Dimitar K., Piazza, Amy L., Pino, Gisele, Turgeon, Coleman, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Rinaldo, Piero |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
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 |
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