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Article

Metabolic and neuropsychological phenotype in women heterozygous for ornithine transcarbamylase deficiency.

Annals of neurology - 1 Jan 2004

Gyato Kunsang, Wray J, Huang Z J, Yudkoff M, Batshaw Mark L

Abstract excerpt

We compared neurocognitive indices with clinical status, mutation analysis, and urea synthetic capacity in 19 women heterozygous for ornithine transcarbamylase deficiency. Although as a group, these women had average IQ scores, they displayed a specific neuropsychological phenotype with significa...

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Source

Identifiers

PMID: 14705115
DOI: 10.1002/ana.10794

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14705115-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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