Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases

Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin accumulates in ASMd as well as NPC, lysosphingomyel...

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Veröffentlicht in:	Analytical biochemistry 2017-05, Vol.525, p.73-77
Hauptverfasser:	Kuchar, L., Sikora, J., Gulinello, M.E., Poupetova, H., Lugowska, A., Malinova, V., Jahnova, H., Asfaw, B., Ledvinova, J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomarkers - blood Case-Control Studies Chromatography, Liquid - methods Dried Blood Spot Testing - methods Humans Lysosphingomyelin Mass spectrometry Niemann-Pick A/B Niemann-Pick C Niemann-Pick Disease, Type A - blood Niemann-Pick Disease, Type A - diagnosis Niemann-Pick Disease, Type B - blood Niemann-Pick Disease, Type B - diagnosis Niemann-Pick Disease, Type C - blood Niemann-Pick Disease, Type C - diagnosis Phosphorylcholine - analogs & derivatives Phosphorylcholine - blood Screening Spectrometry, Mass, Electrospray Ionization - methods Sphingosine - analogs & derivatives Sphingosine - blood Sphingosylphosphorylcholine Tandem Mass Spectrometry - methods
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