Fig. 1: PRISMA flow diagram.

The PRISMA flow diagram of systematic literature search demonstrates the flow of information of the meta-analysis. A total of 15 publications reporting on newborn screening (NBS) patients (n = 11 for targeted metabolic studies [TMS]) were included into quantitative synthesis after other publications were excluded with reasons. For detailed reasons for exclusion of studies, see Supplementary Tables 2 and 4.