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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Detaylı Bibliyografya
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Springer Netherlands 2013
Konular:
Original Article
Online Erişim: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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