@article{SjarifHellerudvan Amsteletal.2004,
  author    = {Sjarif, Damayanti R. and Hellerud, Christina and van Amstel, Johannes K. Ploos and Kleijer, Willem J. and Sperl, Wolfgang and Lacombe, Didier and Sass, J{\"o}rn Oliver and Beemer, Frits A. and Duran, Marinus and Poll-The, Bwee Tien},
  title     = {Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation},
  journal   = {European Journal of Human Genetics},
  volume    = {12},
  number    = {6},
  issn      = {1018-4813},
  doi       = {10.1038/sj.ejhg.5201172},
  institution = {Institut f{\"u}r funktionale Gen-Analytik (IFGA)},
  pages     = {424 -- 432},
  year      = {2004},
  language  = {en}
}