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Article

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

Human mutation - 1 Dec 2018

Tomanin Rosella, Karageorgos Litsa, Zanetti Alessandra, Al-Sayed Moeenaldeen, Bailey Mitch, Miller Nicole, Sakuraba Hitoshi, Hopwood John J

Abstract excerpt

Maroteaux-Lamy syndrome (MPS VI) is an autosomal recessive lysosomal storage disorder caused by pathogenic ARSB gene variants, commonly diagnosed through clinical findings and deficiency of the arylsulfatase B (ASB) enzyme. Detection of ARSB pathogenic variants can independently confirm diagnosis and render genetic counseling possible. In this review, we collect and summarize 908 alleles (201 distinct variants,...

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Identifiers

PMID: 30118150
DOI: 10.1002/humu.23613
PMCID: PMC6282714

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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Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.PMID 30118150Read ↗

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