Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

R. Parini, P. De Lorenzo, A. Dardis, A. Burlina, A. Cassio, P. Cavarzere, D. Concolino, R. Della Casa, F. Deodato, M.A. Donati, A. Fiumara, S. Gasperini, F. Menni, V. Pagliardini, M. Sacchini, M. Spada, R. Taurisano, M.G. Valsecchi, M. Di Rocco, B. Bembi

Research output: Contribution to journalArticle

Original languageEnglish
JournalOrphanet Journal of Rare Diseases
Volume13
Issue number1
DOIs
Publication statusPublished - 2018

Keywords

  • Alglucosidase alpha
  • ERT
  • Infantile onset Pompe disease
  • Recombinant human GAA
  • rhGAA
  • antihistaminic agent
  • corticosteroid derivative
  • recombinant glucan 1,4 alpha glucosidase
  • anaphylaxis
  • Article
  • artificial ventilation
  • bradycardia
  • clinical article
  • clinical feature
  • cohort analysis
  • controlled study
  • cross reactive immunological status
  • demyelinating disease
  • disease course
  • disease exacerbation
  • drug dose increase
  • enzyme analysis
  • enzyme replacement
  • female
  • follow up
  • glottis edema
  • glycogen storage disease type 2
  • hot flush
  • human
  • immunological parameters
  • infant
  • infusion related reaction
  • Italy
  • larynx edema
  • long term care
  • male
  • medical history
  • molecular diagnosis
  • motor dysfunction
  • neuroimaging
  • nuclear magnetic resonance imaging
  • observational study
  • onset age
  • prognosis
  • respiratory distress
  • respiratory failure
  • retrospective study
  • symptom
  • urticaria
  • white matter

Cite this

Parini, R., De Lorenzo, P., Dardis, A., Burlina, A., Cassio, A., Cavarzere, P., Concolino, D., Della Casa, R., Deodato, F., Donati, M. A., Fiumara, A., Gasperini, S., Menni, F., Pagliardini, V., Sacchini, M., Spada, M., Taurisano, R., Valsecchi, M. G., Di Rocco, M., & Bembi, B. (2018). Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. Orphanet Journal of Rare Diseases, 13(1). https://doi.org/10.1186/s13023-018-0771-0