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

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

In: Orphanet Journal of Rare Diseases, Vol. 13, No. 1, 2018.

Research output: Contribution to journalArticle

Parini, R, De Lorenzo, P, Dardis, A, Burlina, A, Cassio, A, Cavarzere, P, Concolino, D, Della Casa, R, Deodato, F, Donati, MA, Fiumara, A, Gasperini, S, Menni, F, Pagliardini, V, Sacchini, M, Spada, M, Taurisano, R, Valsecchi, MG, 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, vol. 13, no. 1. https://doi.org/10.1186/s13023-018-0771-0
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. / Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy. In: Orphanet Journal of Rare Diseases. 2018 ; Vol. 13, No. 1.
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title = "Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy",
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",
author = "R. Parini and {De Lorenzo}, P. and A. Dardis and A. Burlina and A. Cassio and P. Cavarzere and D. Concolino and {Della Casa}, R. and F. Deodato and M.A. Donati and A. Fiumara and S. Gasperini and F. Menni and V. Pagliardini and M. Sacchini and M. Spada and R. Taurisano and M.G. Valsecchi and {Di Rocco}, M. and B. Bembi",
note = "Cited By :1 Export Date: 11 September 2018 Correspondence Address: Parini, R.; Pediatric Rare Diseases Unit, Department of Pediatrics, MBBM Foundation, ATS Monza e Brianza, Via Pergolesi 33, Italy; email: rossella.parini@unimib.it",
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AU - Parini, R.

AU - De Lorenzo, P.

AU - Dardis, A.

AU - Burlina, A.

AU - Cassio, A.

AU - Cavarzere, P.

AU - Concolino, D.

AU - Della Casa, R.

AU - Deodato, F.

AU - Donati, M.A.

AU - Fiumara, A.

AU - Gasperini, S.

AU - Menni, F.

AU - Pagliardini, V.

AU - Sacchini, M.

AU - Spada, M.

AU - Taurisano, R.

AU - Valsecchi, M.G.

AU - Di Rocco, M.

AU - Bembi, B.

N1 - Cited By :1 Export Date: 11 September 2018 Correspondence Address: Parini, R.; Pediatric Rare Diseases Unit, Department of Pediatrics, MBBM Foundation, ATS Monza e Brianza, Via Pergolesi 33, Italy; email: rossella.parini@unimib.it

PY - 2018

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KW - Infantile onset Pompe disease

KW - Recombinant human GAA

KW - rhGAA

KW - antihistaminic agent

KW - corticosteroid derivative

KW - recombinant glucan 1,4 alpha glucosidase

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KW - cohort analysis

KW - controlled study

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KW - male

KW - medical history

KW - molecular diagnosis

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KW - neuroimaging

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KW - observational study

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KW - respiratory failure

KW - retrospective study

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