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Article

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

Clinical genetics - 1 Mar 2007

Santamaria R, Blanco M, Chabás A, Grinberg D, Vilageliu L

Abstract excerpt

GM1 gangliosidosis is a lysosomal storage disorder caused by the absence or reduction of lysosomal beta-galactosidase activity because of mutations in the GLB1 gene. Three major clinical forms have been established: type I (infantile), type II (late infantile/juvenile) and type III (adult). A mutational analysis was performed in 19 patients with GM1 gangliosidosis from South America, mainly from Argentina. Two of...

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Source

Identifiers

PMID: 17309651
DOI: 10.1111/j.1399-0004.2007.00767.x

Genes

GLB1

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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