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[Abstract]2025 Aug;43(4):944-954

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J Inherit Metab Dis 38(6):11471153 Torraco A, Ardissone A, Invernizzi F, Rizza T, Fiermonte G, Niceta M, Zanetti N, Martinelli D, Vozza A, Verrigni D, Di Nottia M, Lamantea E, Diodato D, Tartaglia M, Dionisi-Vici C, Moroni I, Farina L, Bertini E, Ghezzi D, Carrozzo R (2017) Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes