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Article

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) with a predominantly cardiac phenotype.

Molecular genetics and metabolism - 1 Dec 2011

Jurecka Agnieszka, Golda Adam, Opoka-Winiarska Violetta, Piotrowska Ewa, Tylki-Szymańska Anna

Abstract excerpt

We present here the first literature description of a predominantly cardiac phenotype in a patient homozygous for missense mutation p.R152W in the N-acetylogalactosamine-4-sulfatase (arylsulfatase B, ARSB) gene. An adult Caucasian woman, who displayed very few symptoms up to her late thirties, was diagnosed with mucopolysaccharidosis type VI (MPS VI) after her hospitalization due to acute heart failure...

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Source

Identifiers

PMID: 21917494
DOI: 10.1016/j.ymgme.2011.08.024

Genes

ARSB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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