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Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy
Sanfilippo syndrome type B (mucopolysaccharidosis III B, MPS III B) is an autosomal recessive, neurodegenerative disease of children, characterized by profound mental retardation and dementia. The primary cause is mutation in the NAGLU gene, resulting in deficiency of α-N-acetylglucosaminidase and l...
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| Asıl Yazarlar: | , , , , , |
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| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
National Academy of Sciences
2009
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| Konular: | |
| Online Erişim: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2677546/ https://ncbi.nlm.nih.gov/pubmed/19416848 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0903223106 |
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