Article
Spinal involvement in mucopolysaccharidosis IVA (Morquio‐Brailsford or Morquio A syndrome): presentation, diagnosis and management
5 Feb 2013
Abstract excerpt
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...
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