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Article

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

1 Sept 2000

Abstract excerpt

Editor—Sanfilippo syndrome or mucopolysaccharidosis type III (MPS III) encompasses a group of four lysosomal storage disorders resulting from a failure to break down the glycosaminoglycan heparan sulphate. Each of the four subtypes, A, B, C, and D, is caused by the deficiency of a different enzyme in the degradative pathway of heparan sulphate: heparan-N-sulphatase (EC 3.10.1.1), α-N-acetylglucosaminidase...

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Identifiers

PMID: 11182930
DOI: 10.1136/jmg.37.9.704

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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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Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutationsPMID 11182930Read ↗

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