@article{SassJobardTop{\c{c}}uetal.2008,
  author    = {Sass, J. O. and Jobard, F. and Top{\c{c}}u, M. and Mahfoud, A. and Werl{\´e}, E. and Cure, S. and Al-Sannaa, N. and Alshahwan, S. A. and Bataillard, M. and Cimbalistiene, L. and Grolik, C. and Kemmerich, V. and Omran, H. and Sztriha, L. and Tabache, M. and Fischer, J.},
  title     = {L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene},
  journal   = {Journal of Inherited Metabolic Disease},
  volume    = {31},
  number    = {Suppl 2},
  issn      = {0141-8955},
  doi       = {10.1007/s10545-008-0855-4},
  institution = {Institut f{\"u}r funktionale Gen-Analytik (IFGA)},
  pages     = {275 -- 279},
  year      = {2008},
  language  = {en}
}