Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

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 s...

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Main Authors: Beesley, C E, Young, E P, Vellodi, A, Winchester, B G
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
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Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051483/
https://ncbi.nlm.nih.gov/pubmed/9832037
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