O’Byrne, J. ., Tarailo-Graovac, M. ., Ghani, A. ., Champion, M. ., Deshpande, C. ., Dursun, A. ., … van Karnebeek, C. . (2018). The genotypic and phenotypic spectrum of MTO1 deficiency. Molecular Genetics and Metabolism, 123(1), 28-42. https://doi.org/10.1016/j.ymgme.2017.11.003