Biomarker analysis of Niemann-Pick disease type C using chromatography and mass spectrometry

•Simple laboratory tests have been desired for NPC diagnosis.•Various biomarkers for NPC have been reported over the last decade.•NPC biomarkers are mainly categorized as lipid metabolites.•Various chemical analysis methods have been used to identify NPC biomarkers.•Chromatography and mass spectrometry have been used to quantify NPC biomarkers.