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Article

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).

Journal of inherited metabolic disease - 1 Jan 2005

Beesley C E, Jackson M, Young E P, Vellodi A, Winchester B G

Abstract excerpt

Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disease that is caused by the deficiency of the lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). NAGLU is involved in the degradation of the glycosaminoglycan (GAG) heparan sulphate, and a deficiency results in the accumulation of partially degraded GAGs inside lysosomes. Early clinical symptoms include hyperactivity,...

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Source

Identifiers

PMID: 16151907
DOI: 10.1007/s10545-005-0093-y

Genes

NAGLU

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.

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

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Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).PMID 16151907Read ↗

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NAGLU mutations underlying Sanfilippo syndrome type B.Semantic proximity Read ↗

Genotype-phenotype correspondence in Sanfilippo syndrome type B.Semantic proximity Read ↗

Untypically mild phenotype of a patient suffering from Sanfilippo syndrome B with the c.638C>T/c.889C>T (p.Pro213Leu/p.Arg297Ter) mutations in the NAGLU gene.Semantic proximity Read ↗

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).Semantic proximity Read ↗

Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients.Semantic proximity Read ↗

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