Found: 23
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MRI changes in diaphragmatic motion and curvature in Pompe disease over time.
- Published in:
- European Radiology, 2022, v. 32, n. 12, p. 8681, doi. 10.1007/s00330-022-08940-y
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- Publication type:
- Article
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0208854
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- Publication type:
- Article
Enzyme replacement therapy reduces the risk for wheelchair dependency in adult Pompe patients.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Fatal Balamuthia mandrillaris Meningoencephalitis in the Netherlands after Travel to The Gambia.
- Published in:
- Emerging Infectious Diseases, 2015, p. 896, doi. 10.3201/eid2105.141325
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- Publication type:
- Article
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.
- Published in:
- BioDrugs, 2023, v. 37, n. 5, p. 685, doi. 10.1007/s40259-023-00609-2
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- Publication type:
- Article
The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 1, p. 32, doi. 10.1007/s00415-023-11999-2
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- Publication type:
- Article
Diffusion tensor imaging of the brain in Pompe disease.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 3, p. 1662, doi. 10.1007/s00415-022-11506-z
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- Publication type:
- Article
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02924-x
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- Publication type:
- Article
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02715-4
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- Publication type:
- Article
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 9, p. 1414, doi. 10.3390/biom13091414
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- Publication type:
- Article
Phenotypical variation within 22 families with Pompe disease.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-182
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- Publication type:
- Article
Phenotypical variation within 22 families with Pompe disease.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late‐onset Pompe disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 595, doi. 10.1002/jimd.12606
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- Publication type:
- Article
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 1, p. 101, doi. 10.1002/jimd.12560
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- Publication type:
- Article
Is the brain involved in patients with late‐onset Pompe disease?
- Published in:
- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 493, doi. 10.1002/jimd.12469
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- Publication type:
- Article
Long‐term follow‐up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1205, doi. 10.1007/s10545-018-0166-3
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- Publication type:
- Article
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1205, doi. 10.1007/s10545-018-0166-3
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- Publication type:
- Article
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Chest MRI to diagnose early diaphragmatic weakness in Pompe disease.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Positive association between physical outcomes and patient-reported outcomes in late-onset Pompe disease: a cross sectional study.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Start, switch and stop (triple‐S) criteria for enzyme replacement therapy of late‐onset Pompe disease: European Pompe Consortium recommendation update 2024.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 9, p. 1, doi. 10.1111/ene.16383
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- Publication type:
- Article
Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 5, p. 1, doi. 10.1111/ene.16223
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- Publication type:
- Article
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
- Published in:
- 2022
- By:
- Publication type:
- Journal Article