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