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1دورية أكاديمية
المؤلفون: Heard, JM, Vrinten, C, Schlander, M, Bellettato, CM, van Lingen, C, Scarpa, M, Matthijs, G, Nassogne, MC, Debray, FG, Roland, D, Chamova, T, Kozich, V, Pavel, J, Zenker, M, Lampe, C, Das, AM, Hennermann, J, Kolker, S, Weinhold, N, Mohnike, K, Gruenert, S, Lund, AM, Morales-Conejo, M, del Toro-Riera, M, Aldamiz-Echevarria, L, Garcia-Silva, MT, Schiff, M, Gouya, L, Labrune, P, de Lonlay, P, Belmatoug, N, Germain, DP, Cano, A, Dobbelaere, D, Jones, S, Dawson, C, Deegan, P, Santra, S, Vijay, S, Ramadza, DP, Baric, I, Zigman, T, Pflieger, G, Szakszon, K, Kaposta, R, Gasperini, S, Burlina, A, Parenti, G, Strisciuglio, P, Ceccarini, G, Federico, A, Simonati, A, Tumiene, B, Huidekoper, H, van Spronsen, F, Bosch, A, Rubio-Gozalbo, ME, Visser, G, Tangeraas, T, Aarsand, A, Kiec-Wilk, B, Gaspar, AMSM, Quelhas, D, Leao-Teles, E, Azevedo, O, Silva, EMFR, Matos, LMDFD, Martins, E, Lajic, S, Darin, N, Groselj, U, Tansek, MZ
المصدر: Orphanet journal of rare diseases. 15(1):3
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Packman, Seymour, Germain, DP, Charrow, J, Desnick, RJ, Guffon, N, Kempf, J, Lachmann, RH, Lemay, R, Linthorst, GE, Ronald, C
الوصول الحر: https://escholarship.org/uc/item/7mr2x292Test
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3دورية أكاديمية
المؤلفون: Linhart, A, Germain, DP, Olivotto, I, Akhtar, MM, Anastasakis, A, Hughes, D, Namdar, M, Pieroni, M, Hagège, A, Cecchi, F, Gimeno, JR, Limongelli, G, Elliott, P
المصدر: European Journal of Heart Failure , 22 (7) pp. 1076-1096. (2020)
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10105245/1/Akhtar_ejhf.1960.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10105245Test/
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4دورية أكاديمية
المؤلفون: Wanner, C, Feldt-Rasmussen, U, Jovanovic, A, Linhart, A, Yang, M, Ponce, E, Brand, E, Germain, DP, Hughes, DA, Jefferies, JL, Martins, AM, Nowak, A, Vujkovac, B, Weidemann, F, West, ML, Ortiz, A
المصدر: ESC Heart Failure , 7 (3) pp. 825-834. (2020)
مصطلحات موضوعية: Agalsidase beta, Enzyme replacement therapy, Fabry disease, Cardiomyopathy, Kidney function, Female patient
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10093287/1/Hughes_Cardiomyopathy%20and%20kidney%20function%20in%20agalsidase%20beta-treated%20female%20Fabry%20patients_AOP.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10093287Test/
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5دورية أكاديمية
المؤلفون: Hopkin, RJ, Feldt-Rasmussen, U, Germain, DP, Jovanovic, A, Martins, AM, Nicholls, K, Ortiz, A, Politei, J, Ponce, E, Varas, C, Weidemann, F, Yang, M, Wilcox, WR
العلاقة: pii: S2214-4269(20)30116-6; Hopkin, R. J., Feldt-Rasmussen, U., Germain, D. P., Jovanovic, A., Martins, A. M., Nicholls, K., Ortiz, A., Politei, J., Ponce, E., Varas, C., Weidemann, F., Yang, M. & Wilcox, W. R. (2020). Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype. MOLECULAR GENETICS AND METABOLISM REPORTS, 25, https://doi.org/10.1016/j.ymgmr.2020.100670Test.; http://hdl.handle.net/11343/252952Test
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6دورية أكاديمية
المؤلفون: Germain, DP, Elliott, PM, Falissard, B, Fomin, VV, Hilz, MJ, Jovanovic, A, Kantola, I, Linhart, A, Mignani, R, Namdar, M, Nowak, A, Oliveira, JP, Pieroni, M, Viana-Baptista, M, Wanner, C, Spada, M
المساهمون: Instituto de Investigação e Inovação em Saúde
مصطلحات موضوعية: adult male patients, agalsidase alfa, agalsidase beta, enzyme replacement therapy, Fabry disease, systematic literature review
وصف الملف: application/pdf
العلاقة: Molecular Genetics and Metabolism Reports, vol.19:100454; https://www.sciencedirect.com/science/article/pii/S2214426919300096?via%3DihubTest; https://hdl.handle.net/10216/136284Test
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7دورية أكاديمية
المؤلفون: Germain, DP, Nicholls, K, Giugliani, R, Bichet, DG, Hughes, DA, Barisoni, LM, Colvin, RB, Jennette, JC, Skuban, N, Castelli, JP, Benjamin, E, Barth, JA, Viereck, C
العلاقة: pii: S1098-3600(21)04998-4; Germain, D. P., Nicholls, K., Giugliani, R., Bichet, D. G., Hughes, D. A., Barisoni, L. M., Colvin, R. B., Jennette, J. C., Skuban, N., Castelli, J. P., Benjamin, E., Barth, J. A. & Viereck, C. (2019). Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study. GENETICS IN MEDICINE, 21 (9), pp.1987-1997. https://doi.org/10.1038/s41436-019-0451-zTest.; http://hdl.handle.net/11343/246713Test
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8دورية أكاديمية
المؤلفون: Germain, DP, Falissard, B, Hilz, MJ, Spada, M, Wanner, C, Elliott, PM
المصدر: Molecular Genetics and Metabolism Reports , 20 , Article 100493. (2019)
مصطلحات موضوعية: Agalsidase alfa, Agalsidase beta, Enzyme replacement therapy, Fabry disease
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10081036/1/1-s2.0-S2214426919300977-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10081036Test/
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9دورية أكاديمية
المؤلفون: Elliott, PM, Germain, DP, Hilz, MJ, Spada, M, Wanner, C, Falissard, B
المصدر: European Journal of Medical Genetics , 62 (10) , Article 103702. (2019)
مصطلحات موضوعية: Enzyme replacement therapy, Fabry disease, Systematic literature review
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10077171/7/Elliott_1-s2.0-S1769721219301053-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10077171Test/
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10دورية أكاديمية
المؤلفون: Germain, DP, Arad, M, Burlina, A, Elliott, PM, Falissard, B, Feldt-Rasmussen, U, Hilz, MJ, Hughes, DA, Ortiz, A, Wanner, C, Weidemann, F, Spada, M
المصدر: Molecular Genetics and Metabolism , 126 (3) pp. 224-235. (2019)
مصطلحات موضوعية: Fabry disease, Agalsidase alfa, Agalsidase beta, Systematic literature review, Enzyme replacement therapy, Adult female patients
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10075017/1/Elliott_1-s2.0-S1096719218301926-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10075017/7/Elliott_1-s2.0-S1096719218301926-mmc1.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10075017Test/
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