@article{SassVaithilingamGemperleBritschgietal.2016,
  author    = {J{\"o}rn Oliver Sass and Jathana Vaithilingam and Corinne Gemperle-Britschgi and Cath{\´e}rine C. S. Delnooz and Leo A. J. Kluijtmans and Bart P. C. van de Warrenburg and Ron A. Wevers},
  title     = {Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia},
  series   = {Metabolic Brain Disease},
  volume    = {31},
  number    = {3},
  publisher = {Springer US},
  issn      = {0885-7490},
  doi       = {10.1007/s11011-015-9778-6},
  pages     = {587 -- 592},
  year      = {2016},
  language  = {en}
}