Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.

@article{Kyllerman2004LongtermFN,
  title={Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1.},
  author={M{\aa}rten Kyllerman and Ola Hunsbeth Skjeldal and Ernst Christensen and Gudrun Hagberg and Elisabeth Holme and Tuula L{\"o}nnquist and Liselotte Skov and Terje Rotwelt and Ulrika von D{\"o}beln},
  journal={European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society},
  year={2004},
  volume={8 3},
  pages={121-9}
}
All 28 patients, 13 females and 15 males, with glutaric aciduria type 1 diagnosed between 1975 and 2001 in Denmark, Finland, Norway and Sweden were identified and studied retrospectively until 2001. Mass screening was not performed. Three were sibling cases. Prenatal enzymatic diagnosis performed in 11 pregnancies led to termination in one. The median… CONTINUE READING