Integrated Multianalyte Second-Tier Testing for Newborn Screening for MSUD, IVA, and GAMT Deficiencies

Advances in mass spectrometry have allowed for expansion of newborn screening test panels over the last decade but with increased numbers of disorders have come increased concerns with false-positive rates. The introduction of second-tier testing has improved the specificity of screening for a numbe...

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Main Authors: Graham B. Sinclair PhD, FCCMG, Manuel Ester, Gabriella Horvath MD, PhD, FRCPC, FCCMG, Clara D. van Karnebeek MD, PhD, FRCPC, FCCMG, Sylvia Stockler-Ipsirogu MD, FRCPC, Hilary Vallance MD, FCCMG
格式: Article
語言:English
出版: SciELO 2016-09-01
叢編:Journal of Inborn Errors of Metabolism and Screening
在線閱讀:https://doi.org/10.1177/2326409816666296