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Sharkia, R.; Wierenga, K. J.; Kessel, A.; Azem, A.; Bertini, E.; Carrozzo, R.; Torraco, A.; Goffrini, P.; Ceccatelli Berti, C.; McCormick, M. E.; Plecko, B.; Klein, Andrea; Abela, L.; Hengel, H.; Schols, L.; Shalev, S.; Khayat, M.; Mahajnah, M.; Spiegel, R. (2019). Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome. Journal of inherited metabolic diseases, 42(2), pp. 264-275. Wiley 10.1002/jimd.12022