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Article

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.

Human molecular genetics - 1 Sept 1997

Weber B, Guo X H, Wraith J E, Cooper A, Kleijer W J, Bunge S, Hopwood J J

Abstract excerpt

Sanfilippo syndrome type A or mucopolysaccharidosis IIIA (MPS IIIA) is an autosomal recessive lysosomal storage disorder caused by the deficiency of sulfamidase. The resulting lysosomal storage of heparan sulfate may lead to severe neurodegeneration preceded by progressive dementia, often combined with aggressive and hyperactive behaviour. A total of 109 patients from four different geographic areas were screened...

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Identifiers

PMID: 9285796
DOI: 10.1093/hmg/6.9.1573

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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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations in Sanfilippo A syndrome: implications for enzyme function.PMID 9285796Read ↗

Molecular defects in Sanfilippo syndrome type A.Semantic proximity Read ↗

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutationsSemantic 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 in Turkey: Identification of novel mutations in subtypes A and B.Semantic proximity Read ↗

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

A novel loss-of-function mutation in the GNS gene causes Sanfilippo syndrome type D.Semantic proximity Read ↗

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

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

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

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.Semantic proximity Read ↗

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

Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations.Semantic proximity Read ↗

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