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Article

Attenuated osteoarticular phenotype of type VI mucopolysaccharidosis: a report of four patients and a review of the literature.

Clinical rheumatology - 1 May 2014

Jurecka Agnieszka, Zakharova Ekaterina, Malinova Vera, Voskoboeva Elena, Tylki-Szymańska Anna

Abstract excerpt

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome, MPS VI, OMIM 253200) is caused by mutations in the gene coding for N-acetylgalactosamine-4-sulfatase (4-sulfatase, arylsulfatase B, ARSB, EC 3.1.6.12), a lysosomal enzyme involved in the degradation of dermatan sulfate (DS). The clinical presentation of MPS VI varies greatly with respect to age of onset and rate of disease progression. This report focuses on...

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Identifiers

PMID: 24221504
DOI: 10.1007/s10067-013-2423-z
PMCID: PMC4000421

Genes

ARSB

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Source receipt: pubmed, retrieved 7 Sept 2026.

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