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Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition()
Morquio B disease (MBD) or Mucopolysaccharidosis type IV B (MPS IV B) is caused by particular GLB1 mutations specifically affecting the affinity of beta-galactosidase to keratan sulphate, resulting in dysostosis multiplex resembling Morquio A (MPS IV A) disease (GALNS deficiency). Additional neurono...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Elsevier
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6072644/ https://www.ncbi.nlm.nih.gov/pubmed/30094186 http://dx.doi.org/10.1016/j.ymgmr.2018.06.006 |