A Description of Skeletal Manifestation in Adult Case of Morquio Syndrome: Radiographic and MRI Appearance
We report on a rare case of Morquio syndrome, an autosomal recessive mucopolysaccharidosis including type IVA, a deficiency of N-acetylgalctosamine-6-sulfatase and type IVB a deficiency of β-galactosidase. A 43-year-old female patient affected by IVB Morquio syndrome underwent instrumental investiga...
Main Authors: | Annalisa Di Cesare, Alessandra Di Cagno, Stefano Moffa, Paolucci Teresa, Innocenzi Luca, Arrigo Giombini |
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Format: | Article |
Language: | English |
Published: |
Hindawi Limited
2012-01-01
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Series: | Case Reports in Medicine |
Online Access: | http://dx.doi.org/10.1155/2012/324596 |
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