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Article

Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.

Orphanet journal of rare diseases - 4 Apr 2013

Brands Marion M, Hoogeveen-Westerveld Marianne, Kroos Marian A, Nobel Willemieke, Ruijter George J, Özkan Lale, Plug Iris, Grinberg Daniel, Vilageliu Lluïsa, Halley Dicky J, van der Ploeg Ans T, Reuser Arnold J

Abstract excerpt

BACKGROUND: Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome; MPS VI) is an autosomal recessive lysosomal storage disorder in which deficiency of N-acetylgalactosamine 4-sulfatase (arylsulfatase B; ARSB) leads to the storage of glycosaminoglycans (GAGs) in connective tissue. The genotype-phenotype correlation has been addressed in several publications but the picture is not complete. Since 2007,...

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

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Identifiers

PMID: 23557332
DOI: 10.1186/1750-1172-8-51
PMCID: PMC3637222

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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