EFFORTS TO RESTORE THE WHITE SEA FISHING FLEET IN THE INITIAL PERIOD OF THE NEP


Application of targeted high-throughput sequencing as a diagnostic tool for neonatal genetic metabolic diseases following tandem mass spectrometry screening

BackgroundTandem mass spectrometry (MS/MS) is a crucial technique for detecting inborn errors of metabolism (IEM) tillman 750m in newborns.However, the high false positive rate poses challenges in diagnosing specific types of diseases.Therefore, this study aimed to evaluate the role of targeted next-generation sequencing (NGS) in the accurate diagn

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