Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.

@article{Ormazabal2008Pyridoxal5V,
  title={Pyridoxal 5'-phosphate values in cerebrospinal fluid: reference values and diagnosis of PNPO deficiency in paediatric patients.},
  author={Aida Ormazabal and M. L. S. Oppenheim and Mercedes Serrano and {\'A}ngels Garc{\'i}a-Cazorla and Jaume Campistol and A Garc{\'i}a Ribes and Angeles Maria Ruiz and Juan Moreno and Keith Hyland and P. Clayton and Simon J H Heales and Rafael Artuch},
  journal={Molecular genetics and metabolism},
  year={2008},
  volume={94 2},
  pages={173-7}
}
Our aim was to establish reference values for cerebrospinal fluid (CSF) pyridoxal 5'-phosphate (PLP) in a paediatric population for the diagnosis of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency. For reference values, CSF samples from 113 paediatric controls (age range: 1 day-18 years) from Barcelona and London were analysed. Cerebrospinal fluid PLP… CONTINUE READING