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Article

Rapid diagnosis of Wilson disease by a 28-mutation panel: real-time amplification refractory mutation system in diagnosing acute Wilsonian liver failure.

Clinica chimica acta; international journal of clinical chemistry - 1 Dec 2008

Mak Chloe M, Lam Ching-Wan, Lai Sik-To, Hui Yui, Tam Sidney

Abstract excerpt

BACKGROUND: Wilson disease is one of the commonest inherited and potentially fatal yet treatable liver disorders. About 5-27% patients present with acute liver failure and require prompt chelation therapy and life-saving liver transplantation. Diagnosis during acute liver failure is particularly difficult with short time allowance. Direct molecular diagnosis remains the most decisive tool but is often hindered by...

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PMID: 18760268
DOI: 10.1016/j.cca.2008.08.002

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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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