Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1750-1172
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy ; volume:13 ; number:1 ; day:8 ; month:2 ; year:2018 ; pages:1-12 ; date:12.2018
Orphanet journal of rare diseases ; 13, Heft 1 (8.2.2018), 1-12, 12.2018
- Creator
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Parini, Rossella
- Contributor
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De Lorenzo, Paola
Dardis, Andrea
Burlina, Alberto
Cassio, Alessandra
Cavarzere, Paolo
Concolino, Daniela
Della Casa, Roberto
Deodato, Federica
Donati, Maria Alice
Fiumara, Agata
Gasperini, Serena
Menni, Francesca
Pagliardini, Veronica
Sacchini, Michele
Spada, Marco
Taurisano, Roberta
Valsecchi, Maria Grazia
Di Rocco, Maja
Bembi, Bruno
SpringerLink (Online service)
- DOI
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10.1186/s13023-018-0771-0
- URN
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urn:nbn:de:1111-201804156708
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:47 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Parini, Rossella
- De Lorenzo, Paola
- Dardis, Andrea
- Burlina, Alberto
- Cassio, Alessandra
- Cavarzere, Paolo
- Concolino, Daniela
- Della Casa, Roberto
- Deodato, Federica
- Donati, Maria Alice
- Fiumara, Agata
- Gasperini, Serena
- Menni, Francesca
- Pagliardini, Veronica
- Sacchini, Michele
- Spada, Marco
- Taurisano, Roberta
- Valsecchi, Maria Grazia
- Di Rocco, Maja
- Bembi, Bruno
- SpringerLink (Online service)
Other Objects (12)
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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
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The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease
Enzyme replacement therapy (ERT) in pompe disease
Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease
Infantile Pompe disease with intrauterine onset: a case report and literature review
The impact of interrupting enzyme replacement therapy in late-onset Pompe disease
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease
Enzyme replacement therapy (ERT) in pompe disease
Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy
Improved Enzyme Replacement Therapy with Cipaglucosidase Alfa/Miglustat in Infantile Pompe Disease
Infantile Pompe disease with intrauterine onset: a case report and literature review
The impact of interrupting enzyme replacement therapy in late-onset Pompe disease
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
The effectiveness of enzyme replacement therapy for juvenile-onset Pompe disease: a systematic review
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry
Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease
Enzyme replacement therapy (ERT) in pompe disease