Quantification of Differential Metabolites in Dried Blood Spots Using Second-Tier Testing for SCADD/IBDD Disorders Based on Large-Scale Newborn Screening in a Chinese Population

Background: Although newborn screening (NBS) for metabolic defects using the marker butyl carnitine (C4) combined with the C4-to-acetylcarnitine ratio is adequate, the incorporation of novel parameters may improve differential testing for these disorders without compromising sensitivity.Methods: Ana...

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Hlavní autoři: Wei Zhou (Autor), Heng Cai (Autor), Huizhong Li (Autor), Zhe Ji (Autor), Maosheng Gu (Autor)
Médium: Kniha
Vydáno: Frontiers Media S.A., 2021-11-01T00:00:00Z.
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