Functional assessment tools in children with Pompe disease: A pilot comparative study to identify suitable outcome measures for the standard of care

Author:

Ricci Federica,Brusa Chiara,Rossi Francesca,Rolle Enrica,Placentino Valeria,Berardinelli Angela,Pagliardini Veronica,Porta Francesco,Spada Marco,Mongini TizianaORCID

Publisher

Elsevier BV

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Reference28 articles.

1. Infantile acid maltase deficiency;Griffin;Virchows Arch B Cell Pathol Incl Mol Pathol,1984

2. Pompe disease in infants and children;Kishnani;J Pediatr,2004

3. Pompe disease diagnosis and management guideline;Kishnani;Genet Med Off J Am Coll Med Genet,2006

4. Enzyme replacement therapy in classical infantile Pompe disease: results of a ten-month follow-up study;Klinge;Neuropediatrics,2005

5. Infantile Pompe disease on ERT: update on clinical presentation, musculoskeletal management, and exercise considerations;Case;Am J Med Genet C Semin Med Genet,2012

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