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Article

Diagnosis of Wilson Disease and Its Phenotypes by Using Artificial Intelligence.

Biomolecules - 20 Aug 2021

Medici Valentina, Czlonkowska Anna, Litwin Tomasz, Giulivi Cecilia

Abstract excerpt

WD is caused by ATP7B variants disrupting copper efflux resulting in excessive copper accumulation mainly in liver and brain. The diagnosis of WD is challenged by its variable clinical course, onset, morbidity, and ATP7B variant type. Currently it is diagnosed by a combination of clinical symptoms/signs, aberrant copper metabolism parameters (e.g., low ceruloplasmin serum levels and high urinary and hepatic...

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Identifiers

PMID: 34439909
DOI: 10.3390/biom11081243
PMCID: PMC8394607

Genes

ATP7B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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