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Article

Quantification of ATP7B Protein in Dried Blood Spots by Peptide Immuno-SRM as a Potential Screen for Wilson's Disease.

Journal of proteome research - 3 Feb 2017

Jung Sunhee, Whiteaker Jeffrey R, Zhao Lei, Yoo Han-Wook, Paulovich Amanda G, Hahn Si Houn

Abstract excerpt

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...

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Identifiers

PMID: 27935710
DOI: 10.1021/acs.jproteome.6b00828
PMCID: PMC5574172

Genes

SRM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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