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...

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Detalles Bibliográficos
Autores principales: Bleier, Maria, Yuskiv, Nataliya, Priest, Tina, Moisa Popurs, Marioara Angela, Stockler-Ipsiroglu, Sylvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Research Paper
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

Internet

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

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