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Article

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.

Human mutation - 1 Jun 2004

Muschol Nicole, Storch Stephan, Ballhausen Diana, Beesley Clare, Westermann Jan-Christoph, Gal Andreas, Ullrich Kurt, Hopwood John J, Winchester Bryan, Braulke Thomas

Abstract excerpt

Mucopolysaccharidosis type IIIA (MPSIIIA) is an autosomal recessive lysosomal storage disease caused by mutations in the N-sulfoglucosamine sulfohydrolase gene (SGSH; encoding sulfamidase, also sulphamidase) leading to the lysosomal accumulation and urinary excretion of heparan sulfate. Considerable variation in the onset and severity of the clinical phenotype is observed. We report here on expression studies of...

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Identifiers

PMID: 15146460
DOI: 10.1002/humu.20037

Genes

SGSH

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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