@article{SassMohrOlbrichetal.2006,
  author    = {Sass, J{\"o}rn Oliver and Mohr, Verena and Olbrich, Heike and Engelke, Udo and Horvath, Judit and Fliegauf, Manfred and Loges, Niki Tomas and Schweitzer-Krantz, Susanne and Moebus, Ralf and Weiler, Polly and Kispert, Andreas and Superti-Furga, Andrea and Wevers, Ron A. and Omran, Heymut},
  title     = {Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism},
  journal   = {The American Journal of Human Genetics},
  volume    = {78},
  number    = {3},
  issn      = {0002-9297},
  doi       = {10.1086/500563},
  institution = {Institut f{\"u}r funktionale Gen-Analytik (IFGA)},
  pages     = {401 -- 409},
  year      = {2006},
  language  = {en}
}