| Original language | English |
|---|---|
| Journal | Orphanet Journal of Rare Diseases |
| Volume | 13 |
| Issue number | 1 |
| DOIs | |
| 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
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 journal › Article
}
TY - JOUR
T1 - Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
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
Y1 - 2018
KW - Alglucosidase alpha
KW - ERT
KW - Infantile onset Pompe disease
KW - Recombinant human GAA
KW - rhGAA
KW - antihistaminic agent
KW - corticosteroid derivative
KW - recombinant glucan 1,4 alpha glucosidase
KW - anaphylaxis
KW - Article
KW - artificial ventilation
KW - bradycardia
KW - clinical article
KW - clinical feature
KW - cohort analysis
KW - controlled study
KW - cross reactive immunological status
KW - demyelinating disease
KW - disease course
KW - disease exacerbation
KW - drug dose increase
KW - enzyme analysis
KW - enzyme replacement
KW - female
KW - follow up
KW - glottis edema
KW - glycogen storage disease type 2
KW - hot flush
KW - human
KW - immunological parameters
KW - infant
KW - infusion related reaction
KW - Italy
KW - larynx edema
KW - long term care
KW - male
KW - medical history
KW - molecular diagnosis
KW - motor dysfunction
KW - neuroimaging
KW - nuclear magnetic resonance imaging
KW - observational study
KW - onset age
KW - prognosis
KW - respiratory distress
KW - respiratory failure
KW - retrospective study
KW - symptom
KW - urticaria
KW - white matter
U2 - 10.1186/s13023-018-0771-0
DO - 10.1186/s13023-018-0771-0
M3 - Article
VL - 13
JO - Orphanet Journal of Rare Diseases
JF - Orphanet Journal of Rare Diseases
SN - 1750-1172
IS - 1
ER -