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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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Detaylı Bibliyografya
Asıl Yazarlar: Ohmi, Kazuhiro, Kudo, Lili C., Ryazantsev, Sergey, Zhao, Hui-Zhi, Karsten, Stanislav L., Neufeld, Elizabeth F.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: National Academy of Sciences 2009
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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