-
1دورية أكاديمية
المؤلفون: Linhart, A, Dostálová, G, Nicholls, K, West, ML, Tøndel, C, Jovanovic, A, Giraldo, P, Vujkovac, B, Geberhiwot, T, Brill-Almon, E, Alon, S, Chertkoff, R, Rocco, R, Hughes, D
المصدر: Orphanet Journal of Rare Diseases , 18 (1) , Article 332. (2023)
وصف الملف: application/pdf
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10180937/1/s13023-023-02937-6.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10180937Test/
-
2دورية أكاديمية
المؤلفون: Bichet, DG, Hopkin, RJ, Aguiar, P, Allam, SR, Chien, YH, Giugliani, R, Kallish, S, Kineen, S, Lidove, O, Niu, DM, Olivotto, I, Politei, J, Rakoski, P, Torra, R, Tøndel, C, Hughes, DA
المصدر: Frontiers in Medicine , 10 , Article 1220637. (2023)
مصطلحات موضوعية: chaperone therapy, alpha-galactosidase A, globotriaosylsphingosine, amenability, treatment decisions, patient journey
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10177798/1/fmed-10-1220637.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10177798Test/
-
3دورية أكاديمية
المؤلفون: Burlina, A, Brand, E, Hughes, D, Kantola, I, Krӓmer, J, Nowak, A, Tøndel, C, Wanner, C, Spada, M
المصدر: Molecular Genetics and Metabolism , 139 (2) , Article 107585. (2023)
مصطلحات موضوعية: Fabry disease, biomarkers, chaperone therapy, enzyme replacement therapy, therapeutic goal
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10171400/1/1-s2.0-S1096719223002159-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10171400Test/
-
4دورية أكاديمية
المؤلفون: van der Veen, S. J., Körver, S., Hirsch, A., Hollak, C. E. M., Wijburg, F. A., Brands, M. M., Tøndel, C., van Kuilenburg, A. B. P., Langeveld, M.
المصدر: van der Veen , S J , Körver , S , Hirsch , A , Hollak , C E M , Wijburg , F A , Brands , M M , Tøndel , C , van Kuilenburg , A B P & Langeveld , M 2022 , ' Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression ' , Molecular Genetics and Metabolism , vol. 135 , no. 2 , pp. 163-169 . https://doi.org/10.1016/j.ymgme.2021.12.004Test
الإتاحة: https://doi.org/10.1016/j.ymgme.2021.12.004Test
https://research.vumc.nl/en/publications/115acfac-0ca9-4801-a230-d7a3b0ee7dc0Test
http://www.scopus.com/inward/record.url?scp=85122967021&partnerID=8YFLogxKTest -
5دورية أكاديمية
المؤلفون: Moreno Martínez, D, Aguiar, P, Auray-Blais, C, Beck, M, Bichet, D, Burlina, A, Cole, D, Elliott, P, Feldt-Rasmussen, U, Feriozzi, S, Fletcher, J, Giugliani, R, Jovanovic, A, Kampmann, C, Langeveld, M, Lidove, O, Linhart, A, Mauer, M, Moon, J, Muir, A, Nowak, A, Oliveira, JP, Ortiz, A, Pintos-Morell, G, Politei, J, Rozenfeld, P, Schiffmann, R, Svarstad, E, Talbot, A, Thomas, M, Tondel, C, Warnock, D, West, M, Hughes, D
المصدر: Molecular Genetics and Metabolism , 132 (4) pp. 234-243. (2021)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10120625/3/Moreno%20Marti%CC%81nez_Standardising%20clinical%20outcomes%20measures%20for%20adult%20clinical%20trials%20in%20Fabry%20Disease-%20A%20global%20Delphi%20Consensus_AAM.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10120625Test/
-
6دورية أكاديمية
المؤلفون: Moreno-Martinez, D., Aguiar, P., Auray-Blais, C., Beck, M., Bichet, D. G., Burlina, A., Cole, D., Elliott, P., Feldt-Rasmussen, U., Feriozzi, S., Fletcher, J., Giugliani, R., Jovanovic, A., Kampmann, C., Langeveld, M., Lidove, O., Linhart, A., Mauer, M., Moon, J. C., Muir, A., Nowak, A., Oliveira, J. P., Ortiz, A., Pintos-Morell, G., Politei, J., Rozenfeld, P., Schiffmann, R., Svarstad, E., Talbot, A. S., Thomas, M., Tøndel, C., Warnock, D., West, M. L., Hughes, D. A.
المصدر: Moreno-Martinez , D , Aguiar , P , Auray-Blais , C , Beck , M , Bichet , D G , Burlina , A , Cole , D , Elliott , P , Feldt-Rasmussen , U , Feriozzi , S , Fletcher , J , Giugliani , R , Jovanovic , A , Kampmann , C , Langeveld , M , Lidove , O , Linhart , A , Mauer , M , Moon , J C , Muir , A , Nowak , A , Oliveira , J P , Ortiz , A , Pintos-Morell , G , ....
مصطلحات موضوعية: Clinical outcomes, Clinical trial, Delphi consensus, Fabry disease, Inherited metabolic disorders, Lysosomal storage disorders
وصف الملف: application/pdf
الإتاحة: https://doi.org/10.1016/j.ymgme.2021.02.001Test
https://curis.ku.dk/portal/da/publications/standardising-clinical-outcomes-measures-for-adult-clinical-trials-in-fabry-diseaseTest(e38baf16-2093-4d26-8c76-243de8c7a662).html
https://curis.ku.dk/ws/files/314848024/Moreno_Marti_nez_Standardising_clinical_outcomes_measures_for_adult_clinical_trials_in_Fabry_Disease_A_global_Delphi_Consensus_AAM.pdfTest -
7دورية أكاديمية
المؤلفون: Mohn, K G-I, Brokstad, K A, Islam, S, Oftung, F, Tøndel, C, Aarstad, H J, Cox, R J
المساهمون: University of Bergen and Haukeland University Hospital, Ministry of Health and Care Services, Norwegian Research Council Globvac, European Union, EU Nanomedicines Flunanoair, K.G. Jebsen Centre for Influenza Vaccine Research
المصدر: The Journal of Infectious Diseases ; volume 221, issue 9, page 1528-1537 ; ISSN 0022-1899 1537-6613
مصطلحات موضوعية: Infectious Diseases, Immunology and Allergy
الإتاحة: https://doi.org/10.1093/infdis/jiz583Test
http://academic.oup.com/jid/article-pdf/221/9/1528/33020117/jiz583.pdfTest -
8دورية أكاديمية
المؤلفون: Smeets, N.J.L., Teunissen, Esther M.M., Velden, Kim van der, Burgh, M.J.P. van der, Linders, D.E., Teesselink, E., Moes, D.A.R., Tøndel, C., Heine, R. ter, Heijst, A. van, Schreuder, M.F., Wildt, S.N. de
المصدر: Pediatric Nephrology, 38, 4, pp. 1087-1097
مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 11: Renal disorders Intensive Care, Radboudumc 11: Renal disorders Paediatrics, Radboudumc 11: Renal disorders Pharmacology-Toxicology, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 4: lnfectious Diseases and Global Health Clinical Pharmacy
العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/290628/290628.pdfTest; https://repository.ubn.ru.nl/handle/2066/290628Test
الإتاحة: https://doi.org/10.1007/s00467-022-05651-wTest
https://repository.ubn.ru.nl//bitstream/handle/2066/290628/290628.pdfTest
https://repository.ubn.ru.nl/handle/2066/290628Test -
9دورية أكاديمية
المؤلفون: Wallace, Eric, Goker-Alpan, Wilcox, Holida, Bernat, Longo, N., Hughes, D., Giraldo, P., Molnar, M.J., Ortiz, Hopkin, Tøndel, C., Linhart, A., Deegan, Jovanovic, Muriello, M., Barshop, Kimonis, Vujkovac, B., Nowak, A., Geberhiwot, T., Pisani, A., Germain, D.P., Kantola, I., Knoll, J., Mehta, Ankit, Waldek, Stephen, Chertkoff, Raul, Almon, Einat, Alon, Sari, Rocco, Rossana, Warnock, David G.
المصدر: Molecular Genetics and Metabolism ; volume 138, issue 2, page 107351 ; ISSN 1096-7192
مصطلحات موضوعية: Endocrinology, Genetics, Molecular Biology, Biochemistry, Endocrinology, Diabetes and Metabolism
الإتاحة: https://doi.org/10.1016/j.ymgme.2022.107351Test
https://api.elsevier.com/content/article/PII:S1096719222008290?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1096719222008290?httpAccept=text/plainTest -
10دورية أكاديمية
المؤلفون: Spada, M, Baron, R, Elliott, PM, Falissard, B, Hilz, MJ, Monserrat, L, Tøndel, C, Tylki-Szymańska, A, Wanner, C, Germain, DP
المصدر: Molecular Genetics and Metabolism , 126 (3) pp. 212-223. (2019)
مصطلحات موضوعية: Agalsidase alfa, Agalsidase beta, Enzyme replacement therapy, Fabry disease, Paediatric patients, Systematic literature review
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10052162/1/Elliott_1-s2.0-S1096719218301860-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10052162Test/
