LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.

@article{Klinke2015LCMSMSBA,
  title={LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.},
  author={Glynis Klinke and Marianne Rohrbach and Roberto Giugliani and Patricie Burda and Matthias R Baumgartner and Christel Tran and Matthias Gautschi and D{\'e}borah Mathis and Martin Hersberger},
  journal={Clinical biochemistry},
  year={2015},
  volume={48 9},
  pages={596-602}
}
BACKGROUND Niemann-Pick type C (NP-C) is a rare progressive neurodegenerative lipid storage disorder with heterogeneous clinical presentation and challenging diagnostic procedures. Recently oxysterols have been reported to be specific biomarkers for NP-C but knowledge on the intra-individual variation and on reference intervals in children and adolescents are lacking. METHODS We established a LC-MS/MS assay to measure Cholestane-3β, 5α, 6β-triol (C-triol) and 7-Ketocholesterol (7-KC… CONTINUE READING

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