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 et al. · J Pediatr · 2022

case_series · Level IV

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Abstract

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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