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Article

[Galactosemia: the genotype and phenotype of seven patients].

Revista de neurologia - 1 Jan 2000

Martins E, Teixeira J, Cardoso M L, Lima M R, Briones-Godino P, Barbot C

Abstract excerpt

INTRODUCTION: Despite early dietary therapy, many patients with galactosemia show a neurodegenerative disease specially evident in speech impairment and movement disorders. Magnetic resonance imaging of the brain, show cerebral white matter changes with hypomielinization bilateral and symetrical periventricular hypersignal in T2. PATIENTS AND METHODS: We presented clinical and neuroradiological data of seven...

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Identifiers

PMID: 15229825

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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