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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 HJ Houwen Tudor L Pop Heinz Zoller Han-wook Yoo Sung Won Jung Karl H Weiss Michael L Schilsky Peter Ferenci Si Houn Hahn

Institution:	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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