Figure 1.

PRISMA flow diagram of the systematic search strategy. (a) Definition of the terms used for the systematic search performed for each IMD [7,14]. (b) Pooled results of the systematic searches, including the total number of studies found, screened and included. The terms used to build the search queries are reported in Supplementary Table S1. The details of the separate systematic searches performed for each disorder (e.g., excluded and included articles) are reported in Supplementary Tables S2 and S3. For four disorders, G6PDH-, GAA-. GLA- and GALNS-deficiency, respectively, we selected the articles manually and not systematically due to the high volume of records identified (>300 articles/each).