Article
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.
Journal of inherited metabolic disease - 1 Jun 2011
Manara Renzo, Priante Elena, Grimaldi Marco, Santoro Lucia, Astarita Luca, Barone Rita, Concolino Daniela, Di Rocco Maja, Donati Maria Alice, Fecarotta Simona, Ficcadenti Anna, Fiumara Agata, Furlan Francesca, Giovannini Irene, Lilliu Franco, Mardari Rodica, Polonara Gabriele, Procopio Elena, Rampazzo Angelica, Rossi Andrea, Sanna Graziolina, Parini Rossella, Scarpa Maurizio
Abstract excerpt
BACKGROUND: Hunter disease is a rare X-linked mucopolysaccharidosis. Despite frequent neurological involvement, characterizing the severe phenotype, neuroimaging studies are scarce. OBJECTIVES: To determine frequency and severity of neuroradiological mucopolysaccharidosis-related features; to correlate them with clinical phenotype; to evaluate their natural evolution and the impact of intravenous enzymatic...
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