@article{OfmanRuiterFeenstraetal.2003,
  author    = {Rob Ofman and Jos P. N. Ruiter and Marike Feenstra and Marinus Duran and Bwee Tien Poll-The and Johannes Zschocke and Regina Ensenauer and Willy Lehnert and J{\"o}rn Oliver Sass and Wolfgang Sperl and Ronald J. A. Wanders},
  title     = {2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene},
  series   = {The American Journal of Human Genetics},
  volume    = {72},
  number    = {5},
  publisher = {American Society of Human Genetics},
  issn      = {0002-9297},
  doi       = {10.1086/375116},
  pages     = {1300 -- 1307},
  year      = {2003},
  language  = {en}
}