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Practical Recommendations for Diagnosis and Management of Respiratory Muscle Weakness in Late-Onset Pompe Disease.
Boentert M, Prigent H, Várdi K, Jones HN, Mellies U, Simonds AK, Wenninger S, Barrot Cortés E, Confalonieri M. Boentert M, et al. Int J Mol Sci. 2016 Oct 17;17(10):1735. doi: 10.3390/ijms17101735. Int J Mol Sci. 2016. PMID: 27763517 Free PMC article. Review.
Progressive respiratory muscle weakness is a major cause of morbidity and mortality in late-onset Pompe disease even if enzyme replacement therapy has been established. ...Based on the authors' own experience in over 200 patients, this article c …
Progressive respiratory muscle weakness is a major cause of morbidity and mortality in late-onset Pompe disease …
Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.
Meznaric M, Fumic K, Leonardis L. Meznaric M, et al. J Clin Pathol. 2019 Jul;72(7):468-472. doi: 10.1136/jclinpath-2018-205446. Epub 2019 Mar 16. J Clin Pathol. 2019. PMID: 30878973
No patient with LOPD was found. A total of 49 patients (54%) had fixed muscle weakness, 31 (34%) had mild symptoms and no weakness and 10 (11%) had asymptomatic hyperCKemia. Ventilatory insufficiency associated with proximal muscle weakness …
No patient with LOPD was found. A total of 49 patients (54%) had fixed muscle weakness, 31 (34%) had mild symptoms and no w …
Progress on gene therapy, cell therapy, and pharmacological strategies toward the treatment of oculopharyngeal muscular dystrophy.
Harish P, Malerba A, Dickson G, Bachtarzi H. Harish P, et al. Hum Gene Ther. 2015 May;26(5):286-92. doi: 10.1089/hum.2015.014. Epub 2015 May 11. Hum Gene Ther. 2015. PMID: 25860803 Review.
Oculopharyngeal muscular dystrophy (OPMD) is a muscle-specific, late-onset degenerative disorder whereby muscles of the eyes (causing ptosis), throat (leading to dysphagia), and limbs (causing proximal limb weakness) are mostly affected. ...In v …
Oculopharyngeal muscular dystrophy (OPMD) is a muscle-specific, late-onset degenerative disorder whereby muscles of the …
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, Rodolico C, De Filippi P, Danesino C, Toscano A. Montagnese F, et al. J Neurol. 2015;262(4):968-78. doi: 10.1007/s00415-015-7664-0. Epub 2015 Feb 12. J Neurol. 2015. PMID: 25673129
LOPD presentations were represented by presymptomatic hyperCKemia (37%), proximal/axial muscle weakness (53%) and respiratory impairment (10%). ...Atypical features were observed in 4 patients: marked distal muscle weakness and severe hearing lo …
LOPD presentations were represented by presymptomatic hyperCKemia (37%), proximal/axial muscle weakness (53%) and respi …