Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System

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Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System

Pontesilli, Silvia; Baldoli, Cristina; Rosa, Pasquale Anthony Della; Cattoni, Alessandro; Bernardo, Maria Ester; Meregalli, Pamela; Gasperini, Serena; Motta, Serena; Fumagalli, Francesca; Tucci, Francesca; Baciga, Federica; Consiglieri, Giulia; Canonico, Francesco; De Lorenzo, Paola; Chiapparini, Luisa; Gentner, Bernhard; Aiuti, Alessandro; Biondi, Andrea; Rovelli, Attilio; Parini, Rossella

The Journal of pediatrics, January 2022, 2022-01-00, 20220101, Volume: 240

Journal Article

We developed a brain and spine magnetic resonance scoring system based on a magnetic resonance assessment of 9 patients with mucopolysaccharidosis type I-Hurler who underwent hematopoietic stem-cell transplantation. The score is reliable and correlates with long-term clinical and cognitive outcome in patients with mucopolysaccharidosis type I-Hurler.

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