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The involvement of central nervous system across the phenotypic spectrum of Pompe disease: a systematic review
Torri, Francesca, Buchignani, Bianca, Unluturk, Zeynep, Vadi, Gabriele, Loprieno, Sara, Battini, Roberta, Mancuso, Michelangelo, Siciliano, Gabriele
Published in Neuromuscular disorders : NMD (01.06.2025)
Published in Neuromuscular disorders : NMD (01.06.2025)
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Inspiratory muscle conditioning exercise and diaphragm gene therapy in Pompe disease: Clinical evidence of respiratory plasticity
Smith, Barbara K., Martin, A. Daniel, Lawson, Lee Ann, Vernot, Valerie, Marcus, Jordan, Islam, Saleem, Shafi, Nadeem, Corti, Manuela, Collins, Shelley W., Byrne, Barry J.
Published in Experimental neurology (01.01.2017)
Published in Experimental neurology (01.01.2017)
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Glycogen Storage Diseases Presenting as Hypertrophic Cardiomyopathy
Arad, Michael, Maron, Barry J, Gorham, Joshua M, Johnson, Walter H, Saul, J. Philip, Perez-Atayde, Antonio R, Spirito, Paolo, Wright, Gregory B, Kanter, Ronald J, Seidman, J.G, Seidman, Christine E
Published in The New England journal of medicine (27.01.2005)
Published in The New England journal of medicine (27.01.2005)
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Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment
Montagnese, Federica, Barca, E., Musumeci, O., Mondello, S., Migliorato, A., Ciranni, A., Rodolico, C., De Filippi, P., Danesino, C., Toscano, A.
Published in Journal of neurology (01.04.2015)
Published in Journal of neurology (01.04.2015)
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A pilot study shows the positive effects of continuous airway pressure for treating hypernasal speech in children with infantile-onset Pompe disease
Zeng, Yin-Ting, Liu, Wen-Yu, Torng, Pao-Chuan, Hwu, Wuh-Liang, Lee, Ni-Chung, Lin, Chun-Yi, Chien, Yin-Hsiu
Published in Scientific reports (22.09.2021)
Published in Scientific reports (22.09.2021)
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Altered activation of the tibialis anterior in individuals with Pompe disease: Implications for motor unit dysfunction
Corti, Manuela, Smith, Barbara K., Falk, Darin J., Lawson, Lee Ann, Fuller, David D., Subramony, S.H., Byrne, Barry J., Christou, Evangelos A.
Published in Muscle & nerve (01.06.2015)
Published in Muscle & nerve (01.06.2015)
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Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study
Confalonieri, Marco, Vitacca, Michele, Scala, Raffaele, Polverino, Mario, Sabato, Eugenio, Crescimanno, Grazia, Ceriana, Piero, Antonaglia, Caterina, Siciliano, Gabriele, Ring, Nadja, Zacchigna, Serena, Salton, Francesco, Vianello, Andrea
Published in Orphanet journal of rare diseases (04.03.2019)
Published in Orphanet journal of rare diseases (04.03.2019)
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Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease
Jones, Harrison N., Muller, Carolyn W., Lin, Min, Banugaria, Suhrad G., Case, Laura E., Li, Jennifer S., O’Grady, Gwendolyn, Heller, James H., Kishnani, Priya S.
Published in Dysphagia (01.12.2010)
Published in Dysphagia (01.12.2010)
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Structural and functional cardiac analyses using modern and sensitive myocardial techniques in adult Pompe disease
Morris, Daniel A., Blaschke, Daniela, Krebs, Alice, Canaan-Kühl, Sima, Plöckinger, Ursula, Knobloch, Gesine, Walter, Thula C., Kühnle, York, Boldt, Leif-Hendrik, Kraigher-Krainer, Elisabeth, Pieske, Burkert, Haverkamp, Wilhelm
Published in The International Journal of Cardiovascular Imaging (01.06.2015)
Published in The International Journal of Cardiovascular Imaging (01.06.2015)
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Sleep-disordered breathing and respiratory failure in acid maltase deficiency
Mellies, U, Ragette, R, Schwake, C, Baethmann, M, Voit, T, Teschler, H
Published in Neurology (09.10.2001)
Published in Neurology (09.10.2001)
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