MPS VII – Extending the classical phenotype

Mucopolysaccharidosis VII (or Sly syndrome) is an autosomal recessive disorder characterised by a deficiency in the enzyme Beta-glucuronidase (GUSB). Partial degradation of glycosaminoglycans (GAGs); chondroitin sulfate (CS), dermatan sulfate (DS) and heparan sulfate (HS) results in the accumulation...

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Detalles Bibliográficos
Autores principales: Oldham, A., Oxborrow, N.J., Woolfson, P., Jenkins, P., Gadepalli, C., Ashworth, J., Saxena, A., Rothera, M., Hendriksz, C.J., Tol, G., Jovanovic, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9589197/
https://www.ncbi.nlm.nih.gov/pubmed/36299251
http://dx.doi.org/10.1016/j.ymgmr.2022.100922

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