Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F17%3A10362278" target="_blank" >RIV/00216208:11110/17:10362278 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/17:10362278
Result on the web
<a href="http://dx.doi.org/10.1016/j.ab.2017.02.019" target="_blank" >http://dx.doi.org/10.1016/j.ab.2017.02.019</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1016/j.ab.2017.02.019" target="_blank" >10.1016/j.ab.2017.02.019</a>
Alternative languages
Result language
angličtina
Original language name
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
<a href="/en/project/NV16-33923A" target="_blank" >NV16-33923A: Novel test for classical and variant Niemann-Pick type C disease. Evaluation of pathogenicity of frequent NPC1 alleles implicated in late-onset NPC.</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Analytical Biochemistry
ISSN
0003-2697
e-ISSN
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Volume of the periodical
525
Issue of the periodical within the volume
May
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
73-77
UT code for WoS article
000398878700011
EID of the result in the Scopus database
2-s2.0-85014863349