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Article

ATP7B Mutation Analysis: Wilson Disease, A Difficult to Diagnose Case.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Apr 2020

Hashmi Muhammad Almas, Zubaida Bibi, Asghar Rai Muhammad, Lodhi Munir Akmal

Abstract excerpt

Wilson's Disease (WD) is a common metabolic disorder predominantly involving liver, brain, and eyes. Pancreatic, renal, psychiatric, and cardiac involvement have also been described. No single investigation can be considered diagnostic of WD; therefore, diagnosis is based upon a series of tests best interpreted using Wilson disease diagnostic index (WDDI). We present a difficult-to-diagnose, 9-year girl of...

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Identifiers

PMID: 32513368
DOI: 10.29271/jcpsp.2020.04.433

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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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