Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
Jazyk angličtina Země Spojené státy americké Médium print-electronic
Typ dokumentu srovnávací studie, časopisecké články
PubMed
28259515
DOI
10.1016/j.ab.2017.02.019
PII: S0003-2697(17)30099-4
Knihovny.cz E-zdroje
- Klíčová slova
- Lysosphingomyelin, Mass spectrometry, Niemann-Pick A/B, Niemann-Pick C, Screening, Sphingosylphosphorylcholine,
- MeSH
- biologické markery krev MeSH
- chromatografie kapalinová metody MeSH
- fosforylcholin analogy a deriváty krev MeSH
- hmotnostní spektrometrie s elektrosprejovou ionizací metody MeSH
- lidé MeSH
- Niemannova-Pickova nemoc typu A krev diagnóza MeSH
- Niemannova-Pickova nemoc typu B krev diagnóza MeSH
- Niemannova-Pickova nemoc typu C krev diagnóza MeSH
- sfingosin analogy a deriváty krev MeSH
- studie případů a kontrol MeSH
- tandemová hmotnostní spektrometrie metody MeSH
- test suché kapky krve metody MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- srovnávací studie MeSH
- Názvy látek
- biologické markery MeSH
- fosforylcholin MeSH
- sfingosin MeSH
- sphingosine phosphorylcholine MeSH Prohlížeč
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, lysosphingomyelin (sphingosylphosphorylcholine) and its m/z 509 analog were suggested as biomarkers for both diseases. Herein we present results of simultaneous LC-ESI-MS/MS measurements of lysosphingomyelin and lysosphingomyelin 509 in plasma and dried blood spots (DBS) collected from ASMd and NPC patients and suggest that the plasma but not DBS levels of the two analytes allow differential biochemical screening of ASMd and NPC.
Citace poskytuje Crossref.org
Skin inflammation and impaired adipogenesis in a mouse model of acid ceramidase deficiency
ORMDL2 Deficiency Potentiates the ORMDL3-Dependent Changes in Mast Cell Signaling
Consensus clinical management guidelines for Niemann-Pick disease type C
