@article{SassGemperle-BritschgiTarailo-Graovacetal.2016,
  author    = {Sass, J{\"o}rn Oliver and Gemperle-Britschgi, Corinne and Tarailo-Graovac, Maja and Patel, Nisha and Walter, Melanie and Jordanova, Albena and Alfadhel, Majid and Barić, Ivo and Coker, Mahmut and Damli-Huber, Aynur and Faqeih, Eissa Ali and Segarra, Nuria Garc{\´i}a and Geraghty, Michael T. and J{\aa}tun, Bj{\o}rn Magne and Ucar, Sema Kalkan and Kriewitz, Merten and Rauchenzauner, Markus and Bilić, Karmen and Tournev, Ivailo and Till, Claudia and Sayson, Bryan and Beumer, Daniel and Ye, Cynthia Xin and Zhang, Lin-Hua and Vallance, Hilary and Alkuraya, Fowzan S. and van Karnebeek, Clara D.M.},
  title     = {Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAHmutations: 20 new mutations in 14 families},
  journal   = {Molecular Genetics and Metabolism},
  volume    = {119},
  number    = {1-2},
  issn      = {1096-7192},
  doi       = {10.1016/j.ymgme.2016.07.008},
  institution = {Fachbereich Angewandte Naturwissenschaften},
  pages     = {44 -- 49},
  year      = {2016},
  language  = {en}
}