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Oxysterol/chitotriosidase based selective screening for Niemann-Pick type C in infantile cholestasis syndrome patients.

Anna V DegtyarevaTatiana Y ProshlyakovaMarina S GautierDmitry N DegtyarevElena A KamenetsGalina V BaydakovaDenis V RebrikovEkaterina Y Zakharova
Published in: BMC medical genetics (2019)
Combined analysis of ChT activity and C-triol levels is an effective method for identifying NP-C.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • peritoneal dialysis
  • prognostic factors
  • case report
  • patient reported outcomes