Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease
Authors: Christopher J. Collins Fan Yi Remwilyn Dayuha Phi Duong Simon Horslen Michelle Camarata Ayse K. Coskun Roderick H.J. Houwen Tudor L. Pop Heinz Zoller Han-wook Yoo Sung Won Jung Karl H. Weiss Michael L. Schilsky Peter Ferenci Si Houn Hahn
Affiliation: 1. Seattle Children’s Research Institute, Seattle, Washington;2. University of Washington School of Medicine, Seattle, Washington;3. Yale University School of Medicine, New Haven, Connecticut;4. Wilhelmina Children’s Hospital, University Medical Center, Utrecht, The Netherlands;5. Second Pediatric Clinic, University of Medicine and Pharmacy, Iuliu Hatieganu, Cluj-Napoca, Romania;6. Medical University of Innsbruck, Innsbruck, Austria;8. Gachon University School of Medicine, Incheon, Korea;7. Asan Medical Center, Seoul, Korea;9. Heidelberg University Hospital, Heidelberg, Germany;10. Medical University of Vienna, Vienna, Austria
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Keywords: Wilson disease Leipzig Score Immuno-SRM ATP7B ACN" },{" #name" :" keyword" ," $" :{" id" :" kwrd0035" }," $$" :[{" #name" :" text" ," _" :" acetonitrile AF" },{" #name" :" keyword" ," $" :{" id" :" kwrd0045" }," $$" :[{" #name" :" text" ," _" :" allele frequency CHAPS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0055" }," $$" :[{" #name" :" text" ," _" :" 3-([3-cholamidopropyl] dimethylammonio)-1-propanesulfonate Cp" },{" #name" :" keyword" ," $" :{" id" :" kwrd0065" }," $$" :[{" #name" :" text" ," _" :" ceruloplasmin CV" },{" #name" :" keyword" ," $" :{" id" :" kwrd0075" }," $$" :[{" #name" :" text" ," _" :" coefficient of variation DBS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0085" }," $$" :[{" #name" :" text" ," _" :" dried blood spot FA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0095" }," $$" :[{" #name" :" text" ," _" :" formic acid immuno-SRM" },{" #name" :" keyword" ," $" :{" id" :" kwrd0105" }," $$" :[{" #name" :" text" ," _" :" immunoaffinity enrichment coupled to selected reaction monitoring IS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0115" }," $$" :[{" #name" :" text" ," _" :" internal standard KF" },{" #name" :" keyword" ," $" :{" id" :" kwrd0125" }," $$" :[{" #name" :" text" ," _" :" Kayser-Fleischer LC/MS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0135" }," $$" :[{" #name" :" text" ," _" :" liquid chromatography/mass spectrometry LLOD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0145" }," $$" :[{" #name" :" text" ," _" :" lower limits of detection LLOQ" },{" #name" :" keyword" ," $" :{" id" :" kwrd0155" }," $$" :[{" #name" :" text" ," _" :" lower limits of quantification mAb" },{" #name" :" keyword" ," $" :{" id" :" kwrd0165" }," $$" :[{" #name" :" text" ," _" :" monoclonal antibody SCH" },{" #name" :" keyword" ," $" :{" id" :" kwrd0175" }," $$" :[{" #name" :" text" ," _" :" Seattle Children's Hospital VCI" },{" #name" :" keyword" ," $" :{" id" :" kwrd0185" }," $$" :[{" #name" :" text" ," _" :" variant with conflicting interpretations VUS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0195" }," $$" :[{" #name" :" text" ," _" :" variants of unknown significance WD" },{" #name" :" keyword" ," $" :{" id" :" kwrd0205" }," $$" :[{" #name" :" text" ," _" :" Wilson disease WT" },{" #name" :" keyword" ," $" :{" id" :" kwrd0215" }," $$" :[{" #name" :" text" ," _" :" wild-type
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