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Article

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

European journal of human genetics : EJHG - 1 Jan 1999

Weber B, Guo X H, Kleijer W J, van de Kamp J J, Poorthuis B J, Hopwood J J

Abstract excerpt

Sanfilippo B syndrome (mucopolysaccharidosis IIIB, MPS IIIB) is caused by a deficiency of alpha-N-acetylglucosaminidase, a lysosomal enzyme involved in the degradation of heparan sulphate. Accumulation of the substrate in lysosomes leads to degeneration of the central nervous system with progressive dementia often combined with hyperactivity and aggressive behaviour. Age of onset and rate of progression vary...

Topics

Acetylglucosaminidase
Alleles
Base Sequence
DNA Primers
Genetic Heterogeneity
Genotype
Humans
Mucopolysaccharidosis III
Mutation
Phenotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 10094189
DOI: 10.1038/sj.ejhg.5200242

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Sanfilippo type B syndrome (mucopolysaccharidosis III B): allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes.PMID 10094189Read ↗

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

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

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

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Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.Semantic proximity Read ↗

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

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