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Article

Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: a cross-sectional study.

The Lancet. Neurology - 1 Dec 2013

Schretlen David J, Varvaris Mark, Ho Tiffany E, Vannorsdall Tracy D, Gordon Barry, Harris James C, Jinnah H A

Abstract excerpt

BACKGROUND: Lesch-Nyhan disease is a rare, X-linked, neurodevelopmental metabolic disorder that is caused by abnormalities in the levels of hypoxanthine-guanine phosphoribosyltransferase enzyme activity. The neural substrates associated with Lesch-Nyhan disease remain poorly understood. We aimed to use voxel-based morphometry to identify affected brain regions in classic Lesch-Nyhan disease and Lesch-Nyhan...

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Identifiers

PMID: 24383089
DOI: 10.1016/s1474-4422(13)70238-2
PMCID: PMC3932536

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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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