Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA

Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome is a multisystem disorder caused by galactosamine-6-sulfatase deficiency. Skeletal manifestations, including short stature, skeletal dysplasia, cervical instability, and joint destruction, are known to be associated with this condition. Du...

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Hlavní autoři: Hendriksz, Christian J., Al-Jawad, Maisoon, Berger, Kenneth I., Hawley, Sara M., Lawrence, Rebecca, Mc Ardle, Ciarán, Summers, C. Gail, Wright, Elizabeth, Braunlin, Elizabeth
Médium: Artigo
Jazyk:Inglês
Vydáno: Springer Netherlands 2012
Témata:
Review
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3590399/
https://ncbi.nlm.nih.gov/pubmed/22358740
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-012-9459-0
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