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Quantitative whole-body magnetic resonance imaging in children with Pompe disease: Clinical tools to evaluate severity of muscle disease.

Samuela A FernandesAleena A KhanTracy BoggsMichael BowlingStephanie AustinMihaela StefanescuLaura CasePriya S Kishnani
Published in: JIMD reports (2020)
In the past, physical therapy assessments alone have been used to track disease progression. Here, we show the clinical utility of WBMRI in quantifying muscle involvement in children with Pompe disease, especially regarding the novel involvement of anterior tibialis in children with LOPD, to better assess baseline muscle burden and mapping disease progression in children treated with ERT.
Keyphrases
  • young adults
  • replacement therapy
  • risk factors