The emerging phenotype of long-term survivors with infantile Pompe disease
Open Access
- 26 April 2012
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 14 (9), 800-810
- https://doi.org/10.1038/gim.2012.44
Abstract
No abstract availableKeywords
This publication has 36 references indexed in Scilit:
- Atypical immunologic response in a patient with CRIM-negative Pompe diseaseMolecular Genetics and Metabolism, 2011
- Facial‐muscle weakness, speech disorders and dysphagia are common in patients with classic infantile Pompe disease treated with enzyme therapyJournal of Inherited Metabolic Disease, 2011
- Use of cardiac magnetic resonance imaging to evaluate cardiac structure, function and fibrosis in children with infantile Pompe disease on enzyme replacement therapyMolecular Genetics and Metabolism, 2010
- Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe DiseaseDysphagia, 2009
- Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe DiseasePediatric Research, 2009
- Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe DiseaseThe Journal of Pediatrics, 2009
- Diagnostic criteria for late‐onset (childhood and adult) pompe diseaseMuscle & Nerve, 2009
- Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe diseaseGenetics in Medicine, 2008
- Cardiac Remodeling After Enzyme Replacement Therapy with Acid α-Glucosidase for Infants with Pompe DiseasePediatric Cardiology, 2008
- Chinese hamster ovary cell-derived recombinant human acid α-glucosidase in infantile-onset Pompe diseaseThe Journal of Pediatrics, 2006