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1دورية 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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2دورية أكاديمية
المؤلفون: Ian Keyzor, Simon Shohet, Jeff Castelli, Sheela Sitaraman, Biliana Veleva-Rotse, Jill M. Weimer, Brian Fox, Tobias Willer, Steve Tuske, Louise Crathorne, Klara J. Belzar
المصدر: Biomolecules, Vol 13, Iss 8, p 1227 (2023)
مصطلحات موضوعية: lysosomal storage disorders, molecular chaperone, Fabry disease, Gaucher disease, Pompe disease, Niemann–Pick disease type C, Microbiology, QR1-502
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Priya Kishnani, Benedikt Schoser, Drago Bratkovic, Paula Clemens, Ozlem Goker-Alpan, Xue Ming, Mark Roberts, Matthias Vorgerd, Kumaraswamy Sivakumar, Ans van der Ploeg, Mitchell Goldman, Jacquelyn Wright, Fred Holdbrook, Vipul Jain, Sheela Sitaraman Das, Yasmine Wasfi, Tahseen Mozaffar, Barry Byrne
المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100031- (2023)
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000316Test; https://doaj.org/toc/2949-7744Test
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4دورية أكاديمية
المؤلفون: Melodi Harfouche, Priya S. Kishnani, Eva Krusinska, Jamie Gault, Sheela Sitaraman, Amanda Sowinski, Irina Katz, Stephanie Austin, Margi Goldstein, Andrew E. Mulberg
المصدر: Journal of Patient-Reported Outcomes, Vol 4, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: PROMIS, Pompe disease, Patient-reported outcomes (PROs), Clinical research, Drug development, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s41687-020-00245-2Test; https://doaj.org/toc/2509-8020Test
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5دورية أكاديمية
المؤلفون: Andrew E. Mulberg, Christina Bucci-Rechtweg, Joseph Giuliano, David Jacoby, Franklin K. Johnson, Qing Liu, Deborah Marsden, Scott McGoohan, Robert Nelson, Nita Patel, Klaus Romero, Vikram Sinha, Sheela Sitaraman, John Spaltro, Vivian Kessler
المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-019-1017-5Test; https://doaj.org/toc/1750-1172Test
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6دورية أكاديمية
المؤلفون: David G Warnock, Daniel G Bichet, Myrl Holida, Ozlem Goker-Alpan, Kathy Nicholls, Mark Thomas, Francois Eyskens, Suma Shankar, Mathews Adera, Sheela Sitaraman, Richie Khanna, John J Flanagan, Brandon A Wustman, Jay Barth, Carrolee Barlow, Kenneth J Valenzano, David J Lockhart, Pol Boudes, Franklin K Johnson
المصدر: PLoS ONE, Vol 10, Iss 8, p e0134341 (2015)
وصف الملف: electronic resource
العلاقة: http://europepmc.org/articles/PMC4529213?pdf=renderTest; https://doaj.org/toc/1932-6203Test
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7دورية أكاديمية
المؤلفون: Byrne, Barry J., Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Clemens, Paula R., Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans T., Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida R., Johnson, Franklin, Das, Sheela Sitaraman, Wasfi, Yasmine, Mozaffar, Tahseen
المصدر: Byrne , B J , Schoser , B , Kishnani , P S , Bratkovic , D , Clemens , P R , Goker-Alpan , O , Ming , X , Roberts , M , Vorgerd , M , Sivakumar , K , van der Ploeg , A T , Goldman , M , Wright , J , Holdbrook , F , Jain , V , Benjamin , E R , Johnson , F , Das , S S , Wasfi , Y & Mozaffar , T 2024 , ' Long-term safety and efficacy of cipaglucosidase alfa plus miglustat ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s00415-023-12096-0Test
https://pure.eur.nl/en/publications/1650e4fe-e335-4dd2-bde7-ae2621abef72Test
https://pure.eur.nl/ws/files/121767485/Long-term_safety_and_efficacy_of_cipaglucosidase_alfa_plus_miglustat_in_individuals_living_with_Pompe_disease.pdfTest
http://www.scopus.com/inward/record.url?scp=85178872458&partnerID=8YFLogxKTest -
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: Byrne, Barry J., Schoser, Benedikt, Kishnani, Priya S., Bratkovic, Drago, Clemens, Paula R., Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans T., Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Benjamin, Elfrida R., Johnson, Franklin, Das, Sheela Sitaraman, Wasfi, Yasmine, Mozaffar, Tahseen
المصدر: Byrne , B J , Schoser , B , Kishnani , P S , Bratkovic , D , Clemens , P R , Goker-Alpan , O , Ming , X , Roberts , M , Vorgerd , M , Sivakumar , K , van der Ploeg , A T , Goldman , M , Wright , J , Holdbrook , F , Jain , V , Benjamin , E R , Johnson , F , Das , S S , Wasfi , Y & Mozaffar , T 2023 , ' Long-term safety and efficacy of cipaglucosidase alfa plus miglustat ....
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1007/s00415-023-12096-0Test
https://pure.eur.nl/en/publications/1650e4fe-e335-4dd2-bde7-ae2621abef72Test
https://pure.eur.nl/ws/files/121767485/Long-term_safety_and_efficacy_of_cipaglucosidase_alfa_plus_miglustat_in_individuals_living_with_Pompe_disease.pdfTest
http://www.scopus.com/inward/record.url?scp=85178872458&partnerID=8YFLogxKTest -
10دورية أكاديمية
المؤلفون: Kishnani, Priya, Schoser, Benedikt, Bratkovic, Drago, Clemens, Paula, Goker-Alpan, Ozlem, Ming, Xue, Roberts, Mark, Vorgerd, Matthias, Sivakumar, Kumaraswamy, van der Ploeg, Ans, Goldman, Mitchell, Wright, Jacquelyn, Holdbrook, Fred, Jain, Vipul, Das, Sheela Sitaraman, Wasfi, Yasmine, Mozaffar, Tahseen, Byrne, Barry
المصدر: Genetics in Medicine Open ; volume 1, issue 1, page 100031 ; ISSN 2949-7744
الإتاحة: https://doi.org/10.1016/j.gimo.2023.100031Test
https://api.elsevier.com/content/article/PII:S2949774423000316?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2949774423000316?httpAccept=text/plainTest