Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome

Rajech Sharkia, Klaas J Wierenga, Amit Kessel, Abdussalam Azem, Enrico Bertini, Rosalba Carrozzo, Alessandra Torraco, Paola Goffrini, Camilla Ceccatelli Berti, M Eileen McCormick, Barbara Plecko, Andrea Klein, Lucia Abela, Holger Hengel, Ludger Schöls, Stavit Shalev, Morad Khayat, Muhammad Mahajnah, Ronen Spiegel

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Medicine & Life Sciences