Integrated Metabolomics and Second-Tier Genomic Analysis for Expanded Newborn Screening of Inborn Errors of Metabolism: Protocol for a Multicentric Prospective Cohort Study in India
本方案概述了一项在印度开展的多中心前瞻性队列研究,旨在评估一种结合了液相色谱-串联质谱(LC–MS/MS)代谢组学与第二梯队靶向二代测序(NGS)的综合新生儿筛查方法,以提高对先天性代谢缺陷症的早期检测、诊断准确性和临床管理水平。