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Article

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

Clinical genetics - 1 Apr 2012

Coutinho M F, Lacerda L, Macedo-Ribeiro S, Baptista E, Ribeiro H, Prata M J, Alves S

Abstract excerpt

The functional activity of lysosomal enzymes sialidase, β-galactosidase and N-acetylaminogalacto-6-sulfate-sulfatase in the cell depends on their association in a multienzyme complex with cathepsin A. Mutations in any of the components of this complex result in functional deficiency thereby causing severe lysosomal storage disorders. Here, we report the molecular defects underlying sialidosis (mutations in...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21214877
DOI: 10.1111/j.1399-0004.2011.01625.x

Genes

GLB1
NEU1

Variants

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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