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Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Human mutation - 1 Sept 2007

Karageorgos Litsa, Brooks Doug A, Pollard Anthony, Melville Elizabeth L, Hein Leanne K, Clements Peter R, Ketteridge David, Swiedler Stuart J, Beck Michael, Giugliani Roberto, Harmatz Paul, Wraith James E, Guffon Nathalie, Leão Teles Elisa, Sá Miranda M Clara, Hopwood John J

Abstract excerpt

Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is a lysosomal storage disorder caused by mutations in the N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. ARSB is a lysosomal enzyme involved in the degradation of the glycosaminoglycans (GAG) dermatan and chondroitin sulfate. ARSB mutations reduce enzyme function and GAG degradation, causing lysosomal storage and urinary excretion...

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Source

Identifiers

PMID: 17458871
DOI: 10.1002/humu.20534

Genes

ARSB

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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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Mutational analysis of 105 mucopolysaccharidosis type VI patients.PMID 17458871Read ↗

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Novel mutations of the arylsulphatase B (ARSB) gene in Indian patients with mucopolysaccharidosis type VI.Semantic proximity Read ↗

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a phase II trial of enzyme replacement therapy.Semantic proximity Read ↗

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Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI).Semantic proximity Read ↗

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Novel Mutations, Including a Large Deletion in the ARSB Gene, Causing Mucopolysaccharidosis Type VI.Semantic proximity Read ↗

Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase.Semantic proximity Read ↗

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