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Article

Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

Journal of medical genetics - 1 Feb 2002

Lee-Chen G J, Lin S P, Lin S Z, Chuang C K, Hsiao K T, Huang C F, Lien W C

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Identifiers

PMID: 11836372
DOI: 10.1136/jmg.39.2.e3
PMCID: PMC1735050

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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.

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Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).PMID 11836372Read ↗

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

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

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

[Mucopolysaccharidosis III (Sanfilippo's syndrome): phenotypic characterization].Semantic proximity Read ↗

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

Mucopolysaccharidosis type IIIB (Sanfilippo B): identification of 18 novel alpha-N-acetylglucosaminidase gene mutations.Semantic proximity Read ↗

Identification of Three Novel Homozygous NAGLU Mutations in Egyptian Patients with Sanfilippo Syndrome BSemantic proximity Read ↗

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

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

Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.Semantic proximity Read ↗

Allelic heterogeneity in Spanish patients with Sanfilippo disease type B. Identification of eight new mutations.Semantic proximity Read ↗

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