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Article

Newly observed thalamic involvement and mutations of the HEXA gene in a Korean patient with juvenile GM2 gangliosidosis.

Metabolic brain disease - 1 Sept 2008

Lee Soon Min, Lee Min Jung, Lee Joon Soo, Kim Heung Dong, Lee Jin Sung, Kim Jinna, Lee Seung Koo, Lee Young Mock

Abstract excerpt

Neuroimaging studies of patients with GM2 gangliosidosis are rare. The thalamus and basal ganglia are principally involved in patients affected by the infantile form of GM2 gangliosidosis. Unlike in the infantile form, in juvenile or adult type GM2 gangliosidosis, progressive cortical and cerebel...

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Source

Identifiers

PMID: 18648917
DOI: 10.1007/s11011-008-9090-9

Genes

HEXA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18648917-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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