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Article

Mucopolysaccharidosis type VI: Report of two Taiwanese patients and identification of one novel mutation.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Dec 2001

Yang C F, Wu J Y, Lin S P, Tsai F J

Abstract excerpt

Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulphatase (arylsulfatase B, ASB). We report the clinical investigation and mutation analysis of two Taiwanese patients with severe (Case 1) and intermediate (Case 2) phenotypes of MPS VI. Three missense mutations and one polymorphism were identified. Case 1 was found to...

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Source

Identifiers

PMID: 11802522

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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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