Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management

Mucopolysaccharidosis IVA (MPS IVA), also known as Morquio-Brailsford or Morquio A syndrome, is a lysosomal storage disorder caused by a deficiency of the enzyme N-acetyl-galactosamine-6-sulphate sulphatase (GALNS). MPS IVA is multisystemic but manifests primarily as a progressive skeletal dysplasia...

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Autors principals: Solanki, Guirish A., Martin, Kenneth W., Theroux, Mary C., Lampe, Christina, White, Klane K., Shediac, Renée, Lampe, Christian G., Beck, Michael, Mackenzie, William G., Hendriksz, Christian J., Harmatz, Paul R.
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2013
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3590412/
https://ncbi.nlm.nih.gov/pubmed/23385297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-013-9586-2
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