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Article

Wilson's disease with Leu492Ser mutation and arylsulfatase A pseudodeficiency: just a coincidence?

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2004

Battisti C, Dotti M T, Loudianos G, Dessì V, Battistini S, Amato T, Rufa A, Federico A

Abstract excerpt

Wilson's disease (WD) is an autosomal recessive disorder of copper transport, related to mutations of the ATP7B gene (McKusick 277900). Here we report a new case of WD in which a rare mutation, Leu492Ser expressed for the first time in homozygosity, is associated with neurological presentation of...

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PMID: 15060811
DOI: 10.1007/s10072-004-0220-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15060811-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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