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Radiological findings in patients with mucopolysaccharidosis type VI

The author reports the radiological findings in two siblings with mucopolysaccharidosis type VI (mucopolysaccharide VI). Conventional radiographs of the skeleton and magnetic resonance imaging examination of the central nervous system were performed. Skeletal abnormalities in patients with mucopolysaccharidosis type VI have already been well described by other authors and are generally similar to other mucopolysaccharides. Magnetic resonance imaging of the central nervous system may be helpful in the differential diagnosis, assessment of extension, and follow-up of these diseases.

Mucopolysaccharidoses; Maroteaux-Lamy syndrome; Gargoylism


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