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