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Article

NAGLU mutations underlying Sanfilippo syndrome type B.

American journal of human genetics - 1 Jan 1998

Schmidtchen A, Greenberg D, Zhao H G, Li H H, Huang Y, Tieu P, Zhao H Z, Cheng S, Zhao Z, Whitley C B, Di Natale P, Neufeld E F

Abstract excerpt

Sanfilippo syndrome type B (mucopolysaccharidosis III B) is a rare autosomal recessive disease caused by deficiency of alpha-N-acetylglucosaminidase, one of the enzymes required for the lysosomal degradation of heparan sulfate. The gene for this enzyme, NAGLU, recently was isolated, and several mutations were characterized. We have identified, in amplified exons from nine fibroblast cell lines derived from...

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Identifiers

PMID: 9443878
DOI: 10.1086/301685
PMCID: PMC1376809

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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NAGLU mutations underlying Sanfilippo syndrome type B.PMID 9443878Read ↗

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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 ↗

The molecular basis of 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 ↗

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