Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care
Ricci F, Brusa C, Rossi F, Rolle E, Placentino V, Berardinelli A, Pagliardini V, Porta F, Spada M, Mongini T.
Eur J Paediatr Neurol 2018. 22(6),1103-1109.
Progression of Pompe disease was evaluated in 8 young patients.
From the results of the study, the authors suggest using MFM-20 in young patients with Pompe disease.
Keywords: Children; Cognitive evaluation; Emerging phenotype; Motor function; Outcome measures; Pompe disease
Articles in scientific journals
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Protocol for a phase II, monocentre, double-blind, placebo-controlled, cross-over trial to assess efficacy of pyridostigmine in patients with spinal muscular atrophy types 2-4 (SPACE trial)
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