ArticleJournal of medical genetics1998
Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Article in Journal of medical genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 51 citations in OpenAlex.
- Variant profile of Brazilian patients with Sanfilippo syndrome type B.Genetics and molecular biology · 2026Article
- Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.Molecular genetics and metabolism reports · 2025Article
- Clinical, biochemical, and molecular characterization of a cohort of Egyptian patients with Sanfilippo B syndrome (MPS IIIB): Bayesian Gaussian mixture model.Molecular biology reports · 2025Article
- Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series.Molecular syndromology · 2024Article
- Disease pathology signatures in a mouse model of Mucopolysaccharidosis type IIIB.Scientific reports · 2023Article
- Unusual Clinical Manifestations in a Mexican Patient with Sanfilippo B Syndrome.Diagnostics (Basel, Switzerland) · 2022Article
- Clinical and genetic features of 13 patients with mucopolysaccarhidosis type IIIB: Description of two novelMolecular genetics and metabolism reports · 2021Article
- Epidemiology of Mucopolysaccharidoses Update.Diagnostics (Basel, Switzerland) · 2021Review
- Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.World journal of pediatrics : WJP · 2017Article
- Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.Journal of inherited metabolic disease · 2016Article
- Natural history of Sanfilippo syndrome in Spain.Orphanet journal of rare diseases · 2013Article
- A rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cells.PloS one · 2013Article
- Prevalence and Novel Mutations of Lysosomal Storage Disorders in United Arab Emirates : LSD in UAE.JIMD reports · 2013Article
- Article
- Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.Journal of inherited metabolic disease · 2010Article
- Novel pathologic findings associated with urinary retention in a mouse model of mucopolysaccharidosis type IIIB.Comparative medicine · 2009Article
- Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB.Proceedings of the National Academy of Sciences of the United States of America · 2008Article
- Sanfilippo syndrome: a mini-review.Journal of inherited metabolic disease · 2008Review
- Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the alpha-N-acetylglucosaminidase gene from the Okinawa islands in Japan.Journal of human genetics · 2005Article
- Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB).Journal of inherited metabolic disease · 2005Article
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4 authors.
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Abstract
Sanfilippo syndrome type B or mucopolysaccharidosis type IIIB (MPS IIIB) is one of a group of lysosomal storage disorders that are characterised by the inability to breakdown heparan sulphate. In MPS IIIB, there is a deficiency in the enzyme alpha-N-acetylglucosaminidase (NAGLU) and early clinical symptoms include aggressive behaviour and hyperactivity followed by progressive mental retardation. The disease is autosomal recessive and the gene for NAGLU, which is situated on chromosome 17q21, is approximately 8.5 kb in length and contains six exons. Primers were designed to amplify the entire coding region and intron/exon boundaries of the NAGLU gene in 10 fragments. The PCR products were analysed for sequence changes using SSCP analysis and fluorescent DNA sequencing technology. Sixteen different putative mutations were detected in DNA from 14 MPS IIIB patients, 12 of which have not been found previously. The mutations include four deletions (219-237del19, 334-358del25, 1335delC, 2099delA), two insertions (1447-1448insT, 1932-1933insGCTAC), two nonsense mutations (R297X, R626X), and eight missense mutations (F48C, Y140C, R234C, W268R, P521L, R565W, L591P, E705K). In this study, the Y140C, R297X, and R626X mutations were all found in more than one patient and together accounted for 25% of mutant alleles.
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