@article{SassJobardTopcuetal.2008,
  author    = {J. O. Sass and F. Jobard and M. Top{\c{c}}u and A. Mahfoud and E. Werl{\´e} and S. Cure and N. Al-Sannaa and S. A. Alshahwan and M. Bataillard and L. Cimbalistiene and C. Grolik and V. Kemmerich and H. Omran and L. Sztriha and M. Tabache and J. Fischer},
  title     = {L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene},
  series   = {Journal of Inherited Metabolic Disease},
  volume    = {31},
  number    = {Suppl 2},
  publisher = {Springer Netherlands},
  address   = {Dordrecht},
  issn      = {0141-8955},
  doi       = {10.1007/s10545-008-0855-4},
  pages     = {275 -- 279},
  year      = {2008},
  language  = {en}
}