@article{EnsenauerVockleyWillardetal.2004,
  author    = {Ensenauer, Regina and Vockley, Jerry and Willard, Jan-Marie and Huey, Joseph C. and Sass, J{\"o}rn Oliver and Edland, Steven D. and Burton, Barbara K. and Berry, Susan A. and Santer, Ren{\´e} and Gr{\"u}nert, Sarah and Koch, Hans-Georg and Marquardt, Iris and Rinaldo, Piero and Hahn, Sihoun and Matern, Dietrich},
  title     = {A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening},
  journal   = {The American Journal of Human Genetics},
  volume    = {75},
  number    = {6},
  issn      = {0002-9297},
  doi       = {10.1086/426318},
  institution = {Institut f{\"u}r funktionale Gen-Analytik (IFGA)},
  pages     = {1136 -- 1142},
  year      = {2004},
  language  = {en}
}