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

@inproceedings{Solanki2013SpinalII,
  title={Spinal involvement in mucopolysaccharidosis IVA (Morquio-Brailsford or Morquio A syndrome): presentation, diagnosis and management},
  author={Guirish A Solanki and K W Martin and Mary C. Theroux and Christina Lampe and Klane K White and Ren{\'e}e Shediac and Christian G. Lampe and Michael Beck and William G. Mackenzie and Christian J. Hendriksz and Paul R. Harmatz},
  booktitle={Journal of Inherited Metabolic Disease},
  year={2013}
}
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. Spinal involvement is a major cause of morbidity and mortality in MPS IVA. Early diagnosis and timely treatment of problems involving the spine are critical in preventing or arresting neurological… CONTINUE READING

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