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Article

Molecular defects in Sanfilippo syndrome type A.

Human molecular genetics - 1 May 1997

Blanch L, Weber B, Guo X H, Scott H S, Hopwood J J

Abstract excerpt

Sanfilippo A syndrome (mucopolysaccharidosis type IIIA, MPS-IIIA) is an autosomal recessive neurodegenerative disorder due to an enzymatic defect of the lysosomal enzyme sulphamidase (EC 3.10.1.1) required for the degradation of heparan sulphate. In this study, molecular defects in the sulphamidase gene of MPS-IIIA patients were investigated in a group of 10 patients of Australian and American origin. The entire...

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Identifiers

PMID: 9158154
DOI: 10.1093/hmg/6.5.787

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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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Molecular defects in Sanfilippo syndrome type A.PMID 9158154Read ↗

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.Semantic proximity Read ↗

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

Identification of a common mutation (R245H) in Sanfilippo A patients from The Netherlands.Semantic proximity Read ↗

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.Semantic proximity Read ↗

Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.Semantic proximity Read ↗

Identification of 16 sulfamidase gene mutations including the common R74C in patients with mucopolysaccharidosis type IIIA (Sanfilippo A).Semantic proximity Read ↗

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene.Semantic proximity Read ↗

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.Semantic proximity Read ↗

Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA).Semantic proximity Read ↗

Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene.Semantic proximity Read ↗

Analysis of Sanfilippo A gene mutations in a large pedigree.Semantic proximity Read ↗

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