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These innovations underscore ongoing efforts to overcome target identification barriers and expand precision therapeutic options

Although newborn screening (NBS) using tandem mass spectrometry (MS/MS) enables early detection by measuring more than 40 metabolites in dried blood spots, including propionylcarnitine (C3), the C3/acetylcarnitine (C2) ratio, and methionine, metabolite-based screening may be less reliable in clinically unstable or stressed newborns [16]