Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB

BACKGROUND: Mucopolysaccharidosis type IIIB (MPS IIIB) is a rare genetic disorder in which the deficiency of the lysosomal enzyme N-acetyl-α-glucosaminidase (NAGLU) results in the accumulation of heparan sulfate (HS), leading to progressive neurocognitive deterioration. In MPS IIIB a wide spectrum o...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Meijer, O. L. M., Welling, L., Valstar, M. J., Hoefsloot, L. H., Brüggenwirth, H. T., van der Ploeg, A. T., Ruijter, G. J. G., Wagemans, T., Wijburg, F. A., van Vlies, N.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2016
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4851702/
https://ncbi.nlm.nih.gov/pubmed/26907177
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-016-9916-2
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