Journal of Lipid Research
MethodsA sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma[S]
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- 3β,5α,6β-triol
cholestan-3β,5α,6β-triol
- 7-KC
7-ketocholesterol
- APCI
atmospheric pressure chemical ionization
- CH-DMG2
cholestane-5α-hydroxy-3β,6β-bis(dimethylglycinate)
- 13CNMR
carbon 13 nuclear magnetic resonance; CV, coefficient of variance
- DMAP
4-(dimethylamino)pyridine
- DMG
dimethylglycine
- EDC
1-ethyl-3-(3-dimethylaminopropyl) carbodiimide
- [2H7]3β,5α,6β-triol
25,26,26,26,27,27,27-D7-cholestane-3β,5α,6β-triol
- [2H7]7-KC
25,26,26,26,27,27,27-D7-7-ketocholesterol
- 1HNMR
proton nuclear magnetic resonance
- HQC
high quality control
- KC-DMG
7-ketocholesteryl dimethylglycinate
- K2EDTA
ethylenediamine-tetraacetic acid dipotassium salt
- LLOQ
lower limit of quantification
- LQC
low quality control
- MQC
medium quality control
- MRM
multiple reaction monitoring
- NPC
Neimann Pick Type C
- PPV
positive predictive value
- QC
quality control
- RE
relative error
- ROC
receiver-operator characteristic
- ROS
reactive oxygen species
- ULOQ
upper limit of quantification
Abbreviations:
This work was performed in the Metabolomics Facility at Washington University. The authors received support from the Washington University Specialized Centers of Clinically Oriented Research grant P50 HL083762 (D.S.O.), Dana's Angels Research Trust (D.S.O. and N.Y.), Ara Parseghian Medical Research Foundation (D.S.O. and N.Y.), Medical Research Council, UK (A.S.), and Action Medical Research, UK (D.T.V.). This study was also supported by the intramural research program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (F.D.P.) and a Bench to Bedside award from the Office of Rare Diseases (F.D.P. and D.S.O.).
- [S]
The online version of this article (available at http://www.jlr.org) contains supplementary data in the form of one figure and three tables.