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Article

Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.

Journal of inherited metabolic disease - 1 Jan 2005

Petry M F G, Nonemacher K, Sebben J C, Schwartz I V D, Azevedo A C M, Burin M G, de Rezende A R, Kim C A, Giugliani R, Leistner-Segal S

Abstract excerpt

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI) is an autosomal recessive disorder caused by deficiency of N-acetylgalactosamine-4-sulphatase (ARSB),which leads to the lysosomal accumulation and excretion of dermatan sulphate (DS). In this study, 13 unrelated MPS VI patients (12 Brazilian and 1 Chilean) were investigated regarding the identification of the ARSB gene mutations using PCR, SSCP and...

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Source

Identifiers

PMID: 16435196
DOI: 10.1007/s10545-005-0020-2

Genes

ARSB

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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Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients.PMID 16435196Read ↗

Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene.Semantic proximity Read ↗

Mutational analysis of 105 mucopolysaccharidosis type VI patients.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 ↗

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

Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations.Semantic proximity Read ↗

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

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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.Semantic proximity Read ↗

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