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Article

Neurological and imaging phenotypes of adults with untreated phenylketonuria: new cases and literature review.

Journal of neurology - 1 Aug 2023

Wang Meng-Wen, Wu Chu-Jun, Zhang Zai-Qiang

Abstract excerpt

OBJECTIVES: Phenylketonuria (PKU) is the most prevalent congenital disease of amino acid metabolism. Neurological manifestations usually complicate PKU in untreated adult patients. This study describes neurological and imaging phenotypes of adult patients with untreated PKU. METHODS: We investigated a cohort of 320 unrelated adult patients with suspected genetic leukoencephalopathies using whole-exome sequencing...

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Identifiers

PMID: 37162580
DOI: 10.1007/s00415-023-11760-9

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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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