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Article

Pathogenic compound heterozygous ATP7B mutations with hypoceruloplasminaemia without clinical features of Wilson's disease.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia - 1 Feb 2014

Arruda Walter O, Munhoz Renato P, de Bem Ricardo S, Deguti Marta M, Barbosa Egberto Reis, Zavala Jorge A, Teive Hélio A G

Abstract excerpt

The authors report a 44-year-old man with a history of attention deficit and hyperactivity disorder, obsessive compulsive behaviour, vocal tics, depression, and anxiety, in whom a compound heterozygous ATP7B mutation was found, associated with hypoceruloplasminemia, but without clinical or pathological manifestation of Wilson's disease (WD). Genetic testing revealed a compound heterozygous ATP7B mutation already...

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PMID: 23962630
DOI: 10.1016/j.jocn.2013.02.030

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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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