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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...

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التفاصيل البيبلوغرافية
الحاوية / القاعدة:	Int J Neonatal Screen
المؤلفون الرئيسيون:	Gavrilov, Dimitar K., Piazza, Amy L., Pino, Gisele, Turgeon, Coleman, Matern, Dietrich, Oglesbee, Devin, Raymond, Kimiyo, Tortorelli, Silvia, Rinaldo, Piero
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	MDPI 2020
الموضوعات:	Article
الوصول للمادة أونلاين:	https://ncbi.nlm.nih.gov/pmc/articles/PMC7423003/ https://ncbi.nlm.nih.gov/pubmed/33073028 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijns6020033
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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

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