Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard

Deficiency of glucocerebrosidase (GBA) leads to Gaucher disease (GD), an inherited disorder characterised by storage of glucosylceramide (GlcCer) in lysosomes of tissue macrophages. Recently, we reported marked increases of deacylated GlcCer, named glucosylsphingosine (GlcSph), in plasma of GD patie...

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Veröffentlicht in:	Blood cells, molecules, & diseases molecules, & diseases, 2015-04, Vol.54 (4), p.307-314
Hauptverfasser:	Mirzaian, Mina, Wisse, Patrick, Ferraz, Maria J., Gold, Henrik, Donker-Koopman, Wilma E., Verhoek, Marri, Overkleeft, Herman S., Boot, Rolf G., Kramer, Gertjan, Dekker, Nick, Aerts, Johannes M.F.G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomarkers - blood Biomarkers - urine Carbon Isotopes Case-Control Studies Chemokines, CC - blood Enzyme Replacement Therapy Gaucher disease Gaucher Disease - blood Gaucher Disease - diagnosis Gaucher Disease - drug therapy Gaucher Disease - urine Glucocerebrosidase Glucosylceramidase - deficiency Glucosylceramidase - therapeutic use Glucosylsphingosine Hexosaminidases - blood Humans LC-MS/MS Mass spectrometry Observer Variation Psychosine - analogs & derivatives Psychosine - blood Psychosine - urine Quantification Reference Standards Reproducibility of Results Spectrometry, Mass, Electrospray Ionization Tandem Mass Spectrometry
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