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1دورية أكاديمية
المؤلفون: Kristl G. Claeys, Hani Kushlaf, Syed Raza, Noemi Hummel, Simon Shohet, Ian Keyzor, Agnieszka Kopiec, Ryan Graham, Brian Fox, Benedikt Schoser
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-10 (2024)
مصطلحات موضوعية: Minimal clinically important difference, MCID, Six-minute walk distance, 6MWD, Late-onset Pompe disease, Disease severity, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Alberto Palladino, Luigia Passamano, Marianna Scutifero, Salvatore Morra, Esther Picillo, Andrea Antonio Papa, Gerardo Nigro, Luisa Politano
المصدر: Cardiogenetics, Vol 14, Iss 1, Pp 38-50 (2024)
مصطلحات موضوعية: late-onset Pompe disease, heart rhythm disorders, myocardial involvement, risk of arrhythmias, Diseases of the circulatory (Cardiovascular) system, RC666-701
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/2035-8148/14/1/3Test; https://doaj.org/toc/2035-8253Test; https://doaj.org/toc/2035-8148Test
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3دورية أكاديمية
المؤلفون: Priya S. Kishnani, Simon Shohet, Syed Raza, Noemi Hummel, Jeffrey P. Castelli, Sheela Sitaraman Das, Heng Jiang, Agnieszka Kopiec, Ian Keyzor, Andreas Hahn
المصدر: Journal of Patient-Reported Outcomes, Vol 8, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Patient-reported outcomes, Patient-Reported Outcome Measurement Information System (PROMIS), Late-onset Pompe disease, Physical function, Quality of life, PROPEL, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2509-8020Test
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4دورية أكاديمية
المؤلفون: Matthias Boentert, Kenneth I. Berger, Jordi Díaz-Manera, Mazen M. Dimachkie, Alaa Hamed, Lionel Riou França, Nathan Thibault, Pragya Shukla, Jack Ishak, J. Jaime Caro
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-8 (2024)
مصطلحات موضوعية: Late-onset Pompe disease, Clinical trial, Win ratio, Enzyme replacement therapy, Avalglucosidase alfa, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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5دورية أكاديمية
المؤلفون: Gamida Ismailova, Margreet A. E. M. Wagenmakers, Esther Brusse, Ans T. van der Ploeg, Marein M. Favejee, Nadine A. M. E. van der Beek, Linda E. M. van den Berg
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
مصطلحات موضوعية: Late onset Pompe disease, Exercise training program, WHO physical activity norm, Endurance, Muscle strength, Muscle function, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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6دورية أكاديمية
المؤلفون: Tahseen Mozaffar, Lionel Riou França, Jérôme Msihid, Pragya Shukla, Irina Proskorovsky, Tianyue Zhou, Magali Periquet, Kristina An Haack, Laurence Pollissard, Volker Straub
المصدر: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101109- (2024)
مصطلحات موضوعية: Late-onset Pompe disease, Enzyme replacement therapy, Avalglucosidase alfa, Alglucosidase alfa, Respiratory, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426924000624Test; https://doaj.org/toc/2214-4269Test
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7دورية أكاديمية
المؤلفون: Chris Carter, Tracy Boggs, Laura E. Case, Priya Kishnani
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: glycogen storage disease type 2, lysosomal storage disease (LSD), alglucosidase alfa, avalglucosidase alfa, late-onset Pompe disease (LOPD), enzyme replacement therapy, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1309146/fullTest; https://doaj.org/toc/1664-8021Test
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8دورية أكاديمية
المؤلفون: Priya S. Kishnani, Simon Shohet, Syed Raza, Noemi Hummel, Jeffrey P. Castelli, Sheela Sitaraman Das, Heng Jiang, Agnieszka Kopiec, Ian Keyzor, Andreas Hahn
مصطلحات موضوعية: Biochemistry, Medicine, Cell Biology, Pharmacology, Biotechnology, Sociology, Science Policy, Space Science, Patient-reported outcomes, Patient-Reported Outcome Measurement Information System (PROMIS), Late-onset Pompe disease, Physical function, Quality of life, PROPEL, Validation
الإتاحة: https://doi.org/10.6084/m9.figshare.25123975.v1Test
https://figshare.com/articles/journal_contribution/Additional_file_1_of_Validation_of_the_Patient-Reported_Outcomes_Measurement_Information_System_PROMIS_physical_function_questionnaire_in_late-onset_Pompe_disease_using_PROPEL_phase_3_data/25123975Test -
9دورية أكاديمية
المؤلفون: Mónica López-Rodríguez, Miguel Angel Torralba-Cabeza, Iván Pérez de Pedro, Alberto Rivera, Roi Suarez Gil, Ana Gómez-Belda, Jose Luis Patier de la Peña, Alberto de los Santos Moreno, Albert Selva-O’Callaghan, Igor Gómez Gárate, Andrés González García, Roberto Hurtado, Pablo Tutor de Ureta, Miguel Ángel Barba-Romero, José C. Milisenda, Josep M. Grau-Junyent, POMPE study group
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Late-onset pompe disease, Internal medicine department, Screening, Spain, Dried blood spots, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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10دورية أكاديمية
المصدر: Muscle & Nerve. 65(3)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Lung, Rare Diseases, Prevention, Neurodegenerative, Infectious Diseases, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, COVID-19, Glycogen Storage Disease Type II, Humans, RNA, Viral, Respiratory Muscles, SARS-CoV-2, fatigue, late-onset Pompe disease, pulmonary disease, SARS-CoV2, Medical and Health Sciences, Neurology & Neurosurgery, Biological sciences, Biomedical and clinical sciences
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/1b21586gTest