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

doi:10.1186/s13023-018-0771-0

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 journal › Article

Original language	English
Journal	Orphanet Journal of Rare Diseases
Volume	13
Issue number	1
DOIs	https://doi.org/10.1186/s13023-018-0771-0
Publication status	Published - 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

Access to Document

10.1186/s13023-018-0771-0

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85041503065&doi=10.1186%2fs13023-018-0771-0&partnerID=40&md5=7e27a9bae860d2dc291fcace8cdbb3e1

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

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 journal › Article

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 - 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

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