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Article

Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.

Gene - 1 Jan 2013

Sperb Fernanda, Vairo Filippo, Burin Maira, Mayer Fabiana Quoos, Matte Ursula, Giugliani Roberto

Abstract excerpt

GM1 gangliosidosis is a lysosomal disorder caused by β-galactosidase deficiency due to mutations in the GLB1 gene. It is a rare neurodegenerative disorder with an incidence of about 1:100,000-1:200,000 live births worldwide. Here we review GLB1 mutations and clinical features from 65 Brazilian GM1 gangliosidosis patients. Molecular analysis showed 17 different mutations and c.1622-1627insG was the most frequent,...

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Source

Identifiers

PMID: 23046582
DOI: 10.1016/j.gene.2012.09.106

Genes

GLB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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