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• W2554331062 endingPage "871" @default.
• W2554331062 startingPage "862" @default.
• W2554331062 abstract "Wilson's Disease (WD), a copper transport disorder caused by a genetic defect in the ATP7B gene, has been a long time strong candidate for newborn screening (NBS), since early interventions can give better results by preventing irreversible neurological disability or liver cirrhosis. Several previous pilot studies measuring ceruloplasmin (CP) in infants or children showed that this marker alone was insufficient to meet the universal screening for WD. WD results from mutations that cause absent or markedly diminished levels of ATP7B. Therefore, ATP7B could serve as a marker for the screening of WD, if the protein can be detected from dried blood spots (DBS). This study demonstrates that the immuno-SRM platform can quantify ATP7B in DBS in the picomolar range, and that the assay readily distinguishes affected cases from normal controls (p < 0.0001). The assay precision was <10% CV, and the protein was stable for a week in DBS at room temperature. These promising proof-of-concept data open up the possibility of screening WD in newborns and the potential for a multiplexed assay for screening a variety of congenital disorders using proteins as biomarkers in DBS." @default.
• W2554331062 created "2016-11-30" @default.
• W2554331062 creator A5006072228 @default.
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• W2554331062 creator A5072278856 @default.
• W2554331062 creator A5083231545 @default.
• W2554331062 date "2016-12-09" @default.
• W2554331062 modified "2023-10-01" @default.
• W2554331062 title "Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson’s Disease" @default.
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• W2554331062 doi "https://doi.org/10.1021/acs.jproteome.6b00828" @default.
• W2554331062 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5574172" @default.
• W2554331062 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27935710" @default.
• W2554331062 hasPublicationYear "2016" @default.
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