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...

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Detalles Bibliográficos
Autores principales: Di Cesare, Annalisa, Di Cagno, Alessandra, Moffa, Stefano, Teresa, Paolucci, Luca, Innocenzi, Giombini, Arrigo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3398650/
https://www.ncbi.nlm.nih.gov/pubmed/22829837
http://dx.doi.org/10.1155/2012/324596

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