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    The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study by C. Nogueira, C. Nogueira, C. Pereira, L. Silva, L. Silva, Mateus Laranjeira, A. Lopes, R. Neiva, E. Rodrigues, T. Campos, E. Martins, A. Bandeira, M. Coelho, M. Magalhães, J. Damásio, A. Gaspar, P Janeiro, A. Levy Gomes, A. C. Ferreira, S. Jacinto, J. P. Vieira, L. Diogo, H. Santos, C. Mendonça, L. Vilarinho, L. Vilarinho

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  2. 2

    The natural history of classic galactosemia: lessons from the GalNet registry by M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch, B. Burnyte, A. I. Coelho, D. Cassiman, M. L. Couce, C. Dawson, D. Demirbas, T. Derks, F. Eyskens, M. T. Forga, S. Grunewald, J. Häberle, M. Hochuli, A. Hubert, H. H. Huidekoper, P. Janeiro, J. Kotzka, I. Knerr, P. Labrune, Y. E. Landau, J. G. Langendonk, D. Möslinger, D. Müller-Wieland, E. Murphy, K. Õunap, D. Ramadza, I. A. Rivera, S. Scholl-Buergi, K. M. Stepien, A. Thijs, C. Tran, R. Vara, G. Visser, R. Vos, M. de Vries, S. E. Waisbren, M. M. Welsink-Karssies, S. B. Wortmann, M. Gautschi, E. P. Treacy, G. T. Berry

    Published in Orphanet Journal of Rare Diseases (2019-04-01)
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