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

@inproceedings{Hendriksz2012ClinicalOA,
  title={Clinical overview and treatment options for non-skeletal manifestations of mucopolysaccharidosis type IVA},
  author={Christian J. Hendriksz and Maisoon Al-Jawad and Kenneth I. Berger and Sara M. Hawley and Rebecca Lawrence and Ciar{\'a}n Mc Ardle and Carole G Summers and Elizabeth D Wright and Elizabeth Braunlin},
  booktitle={Journal of Inherited Metabolic Disease},
  year={2012}
}
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. Due to the severity of these skeletal manifestations, the non-skeletal manifestations are frequently overlooked despite their significant contribution to disease progression and impact on quality of… CONTINUE READING

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