Analysis of genomics implementation in newborn screening for inherited metabolic disorders: an IRDiRC initiative
Guillem Pintos-Morell,
Maria Iascone,
Giorgio Casari
et al.
Abstract:Since its inception in 1963, newborn screening (NBS) has played a pivotal role in early detection and the establishment of appropriate care for infants and children afflicted with inherited metabolic disorders (IMDs). Despite significant advancements in biomarker identification and metabolomics, current NBS protocols only cover a fraction of known IMDs. The integration of genomics holds promise for expanding the scope of standard NBS, albeit presenting additional challenges. Drawing from the experiences of the… Show more
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