Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation

Peter Monostori*, Glynis Klinke, Jana Hauke, Sylvia Richter, Jorgen Bierau, Sven F. Garbade, Georg F. Hoffmann, Claus-Dieter Langhans, Dorothea Haas, Juergen G. Okun

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Article number0212458
Number of pages17
JournalPLOS ONE
Volume14
Issue number2
DOIs
Publication statusPublished - 28 Feb 2019

Keywords

  • TANDEM MASS-SPECTROMETRY
  • ADENYLOSUCCINATE LYASE DEFICIENCY
  • LABELED INTERNAL STANDARDS
  • INBORN-ERRORS
  • ELECTROSPRAY-IONIZATION
  • OROTIC ACIDURIA
  • METABOLISM
  • CHILDREN
  • UPDATE
  • HPLC

Cite this

Monostori, P., Klinke, G., Hauke, J., Richter, S., Bierau, J., Garbade, S. F., Hoffmann, G. F., Langhans, C-D., Haas, D., & Okun, J. G. (2019). Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation. PLOS ONE, 14(2), [0212458]. https://doi.org/10.1371/journal.pone.0212458