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Article

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Clinical genetics - 1 Sept 2010

Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis B J, Michelakakis H, Plecko B, Paschke E

Abstract excerpt

GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid beta-galactosidase (GLB1). In addition, allelic variants of this gene can result in Morquio B disea...

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Source

Identifiers

PMID: 20175788
DOI: 10.1111/j.1399-0004.2010.01379.x

Genes

GLB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20175788-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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