المؤلفون: Toscano, Antonio, Pollissard, Laurence, Msihid, Jérôme, van der Beek, Nadine, Kishnani, Priya S., Dimachkie, Mazen M., Berger, Kenneth I., DasMahapatra, Pronabesh, Thibault, Nathan, Hamed, Alaa, Zhou, Tianyue, Haack, Kristina An, Schoser, Benedikt

المصدر: Toscano , A , Pollissard , L , Msihid , J , van der Beek , N , Kishnani , P S , Dimachkie , M M , Berger , K I , DasMahapatra , P , Thibault , N , Hamed , A , Zhou , T , Haack , K A & Schoser , B 2024 , ' Effect of avalglucosidase alfa on disease-specific and general patient-reported outcomes in treatment-naïve adults with late-onset Pompe disease compared with alglucosidase alfa : Meaningful change analyses from the Phase 3 COMET trial ' , Molecular Genetics and Metabolism , vol. ....

مصطلحات موضوعية: /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being, name=SDG 3 - Good Health and Well-being

وصف الملف: application/pdf

العلاقة: https://pure.eur.nl/en/publications/dff031c5-0f0f-417b-82df-c348e4971ea8Test

الإتاحة: https://doi.org/10.1016/j.ymgme.2023.108121Test
https://pure.eur.nl/en/publications/dff031c5-0f0f-417b-82df-c348e4971ea8Test
https://pure.eur.nl/ws/files/125601616/Effect_of_avalglucosidase_alfa_on_disease-specific_and_general_patient-reported_outcomes_in_treatment-na_ve_adults_with_late-onset_Pompe_disease_compared_with_alglucosidase_alfa.pdfTest
http://www.scopus.com/inward/record.url?scp=85181834065&partnerID=8YFLogxKTest

المؤلفون: Boentert, Matthias, Berger, Kenneth I., Díaz-Manera, Jordi, Dimachkie, Mazen M., Hamed, Alaa, Riou França, Lionel, Thibault, Nathan, Shukla, Pragya, Ishak, Jack, Caro, J. Jaime

مصطلحات موضوعية: RM Therapeutics. Pharmacology

وصف الملف: text

العلاقة: http://eprints.lse.ac.uk/121465/1/Caro_applying_the_win_ratio_published.pdfTest; Boentert, Matthias, Berger, Kenneth I., Díaz-Manera, Jordi, Dimachkie, Mazen M., Hamed, Alaa, Riou França, Lionel, Thibault, Nathan, Shukla, Pragya, Ishak, Jack and Caro, J. Jaime (2024) Applying the win ratio method in clinical trials of orphan drugs: an analysis of data from the COMET trial of avalglucosidase alfa in patients with late-onset Pompe disease. Orphanet Journal of Rare Diseases, 19 (1). ISSN 1750-1172

الإتاحة: http://eprints.lse.ac.uk/121465Test/
http://eprints.lse.ac.uk/121465/1/Caro_applying_the_win_ratio_published.pdfTest
https://ojrd.biomedcentral.comTest/

المؤلفون: Korb, Manisha, Peck, Allison, Alfano, Lindsay N, Berger, Kenneth I, James, Meredith K, Ghoshal, Nupur, Healzer, Elise, Henchcliffe, Claire, Khan, Shaida, Mammen, Pradeep PA, Patel, Sujata, Pfeffer, Gerald, Ralston, Stuart H, Roy, Bhaskar, Seeley, William W, Swenson, Andrea, Mozaffar, Tahseen, Weihl, Conrad, Kimonis, Virginia, VCP Standards of Care Working Group

المصدر: Orphanet journal of rare diseases. 17(1)

مصطلحات موضوعية: VCP Standards of Care Working Group, Humans, Osteitis Deformans, Myositis, Inclusion Body, Amyotrophic Lateral Sclerosis, Cell Cycle Proteins, Mutation, Standard of Care, Valosin Containing Protein, Neurodegenerative, Brain Disorders, Neurosciences, Rare Diseases, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, Other Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/8mb0b802Test

المؤلفون: Berger, Kenneth John

مرشدي الرسالة: Visser, Martine

مصطلحات موضوعية: behavioural insights, nudges, smart water meters, water conservation

وصف الملف: application/pdf

الإتاحة: http://hdl.handle.net/11427/31407Test

المؤلفون: Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian, Scarpa, Maurizio

المصدر: Orphanet Journal of Rare Diseases. 14(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Mucopolysaccharidoses (MPS), Clinical Research, Rare Diseases, 7.3 Management and decision making, Management of diseases and conditions, Chondroitinsulfatases, Enzyme Replacement Therapy, Female, Humans, Hypercapnia, Male, Mucopolysaccharidosis IV, Morquio a syndrome, Mucopolysaccharidosis, MPS IVA, Management guidelines, Elosulfase alfa, VIMIZIM, Enzyme replacement therapy, ERT, Haematopoietic stem cell transplantation, HSCT, Surgery, Anaesthetics, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/6j0140dzTest

المؤلفون: Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian, Scarpa, Maurizio

المصدر: Orphanet Journal of Rare Diseases. 14(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Research, Rare Diseases, Orphan Drug, Mucopolysaccharidoses (MPS), 7.3 Management and decision making, Management of diseases and conditions, Activities of Daily Living, Consensus, Disease Management, Enzyme Replacement Therapy, Hematopoietic Stem Cell Transplantation, Humans, Mucopolysaccharidoses, Mucopolysaccharidosis VI, N-Acetylgalactosamine-4-Sulfatase, Quality of Life, Recombinant Proteins, Maroteaux-Lamy syndrome, Mucopolysaccharidosis, MPS VI, Management guidelines, Galsulfase, Enzyme replacement therapy, ERT, Haematopoietic stem cell transplantation, HSCT, Surgery, Anaesthetics, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs, Other Medical and Health Sciences, Genetics & Heredity, Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5pc012vkTest

المؤلفون: Kishnani, Priya S, Diaz-Manera, Jordi, Toscano, Antonio, Clemens, Paula R, Ladha, Shafeeq, Berger, Kenneth I, Kushlaf, Hani, Straub, Volker, Carvalho, Gerson, Mozaffar, Tahseen, Roberts, Mark, Attarian, Shahram, Chien, Yin-Hsiu, Choi, Young-Chul, Day, John W, Erdem-Ozdamar, Sevim, Illarioshkin, Sergey, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, van der Ploeg, Ans T, An Haack, Kristina, Huynh-Ba, Olivier, Tammireddy, Swathi, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, Schoser, Benedikt, Musumeci Olimpia

المساهمون: Kishnani, Priya S, Diaz-Manera, Jordi, Toscano, Antonio, Clemens, Paula R, Ladha, Shafeeq, Berger, Kenneth I, Kushlaf, Hani, Straub, Volker, Carvalho, Gerson, Mozaffar, Tahseen, Roberts, Mark, Attarian, Shahram, Chien, Yin-Hsiu, Choi, Young-Chul, Day, John W, Erdem-Ozdamar, Sevim, Illarioshkin, Sergey, Goker-Alpan, Ozlem, Kostera-Pruszczyk, Anna, van der Ploeg, Ans T, An Haack, Kristina, Huynh-Ba, Olivier, Tammireddy, Swathi, Thibault, Nathan, Zhou, Tianyue, Dimachkie, Mazen M, Schoser, Benedikt, Musumeci, Olimpia

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37036722; info:eu-repo/semantics/altIdentifier/wos/WOS:000989785800002; volume:80; issue:6; firstpage:558; lastpage:567; numberofpages:10; journal:JAMA NEUROLOGY; https://hdl.handle.net/11570/3260010Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85161977772; https://jamanetwork.com/journals/jamaneurology/fullarticle/2802973?utm_campaign=articlePDF&utm_medium=articlePDFlink&utm_source=articlePDF&utm_content=jamaneurol.2023.0552Test

الإتاحة: https://doi.org/10.1001/jamaneurol.2023.0552Test
https://hdl.handle.net/11570/3260010Test
https://jamanetwork.com/journals/jamaneurology/fullarticle/2802973?utm_campaign=articlePDF&utm_medium=articlePDFlink&utm_source=articlePDF&utm_content=jamaneurol.2023.0552Test

المؤلفون: Straub, Volker, Kostera-Pruszczyk, Anna, Tammireddy, Swathi, Goker-Alpan, Ozlem, Illarioshkin, Sergey, Day, John W., Choi, Young-Chul, Chien, Yin-Hsiu, Attarian, Shahram, Schoser, Benedikt, Kishnani, Priya S., Diaz-Manera, Jordi, Roberts, Mark, Mozaffar, Tahseen, Toscano, Antonio, Clemens, Paula R., Ladha, Shafeeq, Berger, Kenneth I., Kushlaf, Hani, Carvalho, Gerson, Huynh-Ba, Olivier, An Haack, Kristina, Van Der Ploeg, Ans T., Erdem-Ozdamar, Sevim, Zhou, Tianyue, Thibault, Nathan, Dimachkie, Mazen M.

العلاقة: f6a1c166-a114-4db6-8661-5094b2fca2d6; https://avesis.hacettepe.edu.tr/publication/details/f6a1c166-a114-4db6-8661-5094b2fca2d6/oaiTest

الإتاحة: https://doi.org/10.1001/jamaneurol.2023.0552Test
https://avesis.hacettepe.edu.tr/publication/details/f6a1c166-a114-4db6-8661-5094b2fca2d6/oaiTest

المؤلفون: Wang, Yuyan, Berger, Kenneth I., Zhang, Yian, Shao, Yongzhao, Goldring, Roberta M., Reibman, Joan, Liu, Mengling

المساهمون: CDC/NIOSH, NYU NIEHS, NIH NCATS CTSI

المصدر: Scientific Reports ; volume 13, issue 1 ; ISSN 2045-2322

مصطلحات موضوعية: Multidisciplinary

الإتاحة: https://doi.org/10.1038/s41598-023-30030-2Test
https://www.nature.com/articles/s41598-023-30030-2.pdfTest
https://www.nature.com/articles/s41598-023-30030-2Test

المؤلفون: Harmatz, Paul R, Mengel, Eugen, Geberhiwot, Tarekegn, Muschol, Nicole, Hendriksz, Christian J, Burton, Barbara K, Jameson, Elisabeth, Berger, Kenneth I, Jester, Andrea, Treadwell, Marsha, Sisic, Zlatko, Decker, Celeste

المصدر: American Journal of Medical Genetics Part A. 173(2)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Clinical Sciences, Clinical Trials and Supportive Activities, Clinical Research, Patient Safety, Evaluation of treatments and therapeutic interventions, 6.1 Pharmaceuticals, Activities of Daily Living, Adolescent, Adult, Biomarkers, Child, Chondroitinsulfatases, Enzyme Replacement Therapy, Exercise, Female, Humans, Keratan Sulfate, Male, Mucopolysaccharidosis IV, Quality of Life, Respiratory Function Tests, Self Report, Treatment Outcome, Walking, Young Adult, mucopolysaccharidosis IV, safety, physical endurance, GALNS protein, human [supplementary concept], enzyme replacement therapy, mobility limitation, GALNS protein, human [supplementary concept], Genetics, Clinical sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/5wg0h60bTest