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Article

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.

Human mutation - 1 Feb 2002

Emre Serap, Terzioglu Mugen, Tokatli Aysegul, Coskun Turgay, Ozalp Imran, Weber Birgit, Hopwood John J

Abstract excerpt

Sanfilippo syndrome (mucopolysaccharidosis type III, MPS III) is a progressive disorder in which patients are characterized by severe central nervous system degeneration together with mild somatic disease. MPS III results from a deficiency in one of the four enzymes involved in the degradation of heparan sulfate, with sulfamidase (SGSH) being deficient in MPS IIIA and a-N-acetylglucosaminidase (NAGLU) deficient...

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Source

Identifiers

PMID: 11793481
DOI: 10.1002/humu.9009

Genes

NAGLU
SGSH

Variants

Provenance

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

Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B.PMID 11793481Read ↗

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

Sanfilippo syndrome: a mini-review.Semantic proximity Read ↗

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

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

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).Semantic proximity Read ↗

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

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

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

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).Semantic proximity Read ↗

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.Semantic proximity Read ↗

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