Repositorio Institucional de Documentos

@article{VanBergen:86438,
      author        = "Van Bergen, N.J. and Guo, Y. and Rankin, J. and Paczia, N.
                       and Becker-Kettern, J. and Kremer, L.S. and Pyle, A. and
                       Conrotte, J.F. and Ellaway, C. and Procopis, P. and Prelog,
                       K. and Homfray, T. and Baptista, J. and Baple, E. and
                       Wakeling, M. and Massey, S. and Kay, D.P. and Shukla, A.
                       and Girisha, K.M. and Lewis, L.E.S. and Santra, S. and
                       Power, R. and Daubeney, P. and Montoya, J. and Ruiz-Pesini,
                       E. and Kovacs-Nagy, R. and Pritsch, M. and Ahting, U. and
                       Thorburn, D.R. and Prokisch, H. and Taylor, R.W. and
                       Christodoulou, J. and Linster, C.L. and Ellard, S. and
                       Hakonarson, H.",
      title         = "{NAD(P)HX dehydratase (NAXD) deficiency: a novel
                       neurodegenerative disorder exacerbated by febrile
                       illnesses}",
      year          = "2019",
}