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/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10180937/1/s13023-023-02937-6.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10180937Test/

المؤلفون: Hughes, DA, Aguiar, P, Lidove, O, Nicholls, K, Nowak, A, Thomas, M, Torra, R, Vujkovac, B, West, ML, Feriozzi, S

العلاقة: pii: 10.1186/s13023-022-02181-4; Hughes, D. A., Aguiar, P., Lidove, O., Nicholls, K., Nowak, A., Thomas, M., Torra, R., Vujkovac, B., West, M. L. & Feriozzi, S. (2022). Do clinical guidelines facilitate or impede drivers of treatment in Fabry disease?. ORPHANET JOURNAL OF RARE DISEASES, 17 (1), https://doi.org/10.1186/s13023-022-02181-4Test.; http://hdl.handle.net/11343/305760Test

الإتاحة: https://doi.org/10.1186/s13023-022-02181-4Test
http://hdl.handle.net/11343/305760Test

المؤلفون: Cybulla, M, Nicholls, K, Feriozzi, S, Linhart, A, Torras, J, Vujkovac, B, Botha, J, Anagnostopoulou, C, West, ML, FOS Study Group

العلاقة: pii: jcm11164810; Cybulla, M., Nicholls, K., Feriozzi, S., Linhart, A., Torras, J., Vujkovac, B., Botha, J., Anagnostopoulou, C., West, M. L. & FOS Study Group, (2022). Renoprotective Effect of Agalsidase Alfa: A Long-Term Follow-Up of Patients with Fabry Disease. J Clin Med, 11 (16), pp.4810-. https://doi.org/10.3390/jcm11164810Test.; http://hdl.handle.net/11343/322352Test

الإتاحة: https://doi.org/10.3390/jcm11164810Test
http://hdl.handle.net/11343/322352Test

المؤلفون: BELCIC-MIKIC, T., Vujkovac, B., Kovač, D., Lindič, J.

المصدر: Kidney International Reports ; volume 6, issue 4, page S293 ; ISSN 2468-0249

مصطلحات موضوعية: Nephrology

الإتاحة: https://doi.org/10.1016/j.ekir.2021.03.703Test
https://api.elsevier.com/content/article/PII:S2468024921008494?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2468024921008494?httpAccept=text/plainTest

المؤلفون: Hughes, DA, Aguiar, P, Deegan, PB, Ezgu, F, Frustaci, A, Lidove, O, Linhart, A, Lubanda, J-C, Moon, JC, Nicholls, K, Niu, D-M, Nowak, A, Ramaswami, U, Reisin, R, Rozenfeld, P, Schiffmann, R, Svarstad, E, Thomas, M, Torra, R, Vujkovac, B, Warnock, DG, West, ML, Johnson, J, Rolfe, MJ, Feriozzi, S

العلاقة: pii: bmjopen-2019-035182; Hughes, D. A., Aguiar, P., Deegan, P. B., Ezgu, F., Frustaci, A., Lidove, O., Linhart, A., Lubanda, J. -C., Moon, J. C., Nicholls, K., Niu, D. -M., Nowak, A., Ramaswami, U., Reisin, R., Rozenfeld, P., Schiffmann, R., Svarstad, E., Thomas, M., Torra, R. ,. Feriozzi, S. (2020). Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: findings from the opinion-based PREDICT-FD modified Delphi consensus initiative. BMJ OPEN, 10 (10), https://doi.org/10.1136/bmjopen-2019-035182Test.; http://hdl.handle.net/11343/251682Test

الإتاحة: https://doi.org/10.1136/bmjopen-2019-035182Test
http://hdl.handle.net/11343/251682Test

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/

الإتاحة: 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/

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

المؤلفون: Germain D. P., Altarescu G., Barriales-Villa R., Mignani R., Pawlaczyk K., Pieruzzi F., Terryn W., Vujkovac B., Ortiz A.

المساهمون: Germain, D, Altarescu, G, Barriales-Villa, R, Mignani, R, Pawlaczyk, K, Pieruzzi, F, Terryn, W, Vujkovac, B, Ortiz, A

مصطلحات موضوعية: Chaperone therapy, Chronic kidney disease, Enzyme replacement therapy, Fabry disease, Left ventricular hypertrophy, Therapeutic goal

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35926321; info:eu-repo/semantics/altIdentifier/wos/WOS:000848201500002; volume:137; issue:1-2; firstpage:49; lastpage:61; numberofpages:13; journal:MOLECULAR GENETICS AND METABOLISM; https://hdl.handle.net/10281/419664Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85140658529

الإتاحة: https://doi.org/10.1016/j.ymgme.2022.07.010Test
https://hdl.handle.net/10281/419664Test

المؤلفون: Goláň L, Goker-Alpan O, Holida M, Kantola I, Klopotowski M, Kuusisto J, Linhart A, Musial J, Nicholls K, Gonzalez-Rodriguez D, Sharma R, Vujkovac B, Chang P, Wijatyk A

المصدر: Drug Design, Development and Therapy, Vol 2015, Iss default, Pp 3435-3444 (2015)

مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950

وصف الملف: electronic resource

العلاقة: http://www.dovepress.com/evaluation-of-the-efficacy-and-safety-of-three-dosing-regimens-of-agal-peer-reviewed-article-DDDTTest; https://doaj.org/toc/1177-8881Test

الوصول الحر: https://doaj.org/article/54b325b603824fcb9792985ae8ed304aTest

المؤلفون: Biegstraaten, M., Arngrímsson, R., Barbey, F., Boks, L., Cecchi, F., Deegan, P.B., Feldt-Rasmussen, U., Geberhiwot, T., Germain, D.P., Hendriksz, C., Hughes, D.A., Kantola, I., Karabul, N., Lavery, C., Linthorst, G.E., Mehta, A., van de Mheen, E., Oliveira, J.P., Parini, R., Ramaswami, U., Rudnicki, M., Serra, A., Sommer, C., Sunder-Plassmann, G., Svarstad, E., Sweeb, A., Terryn, W., Tylki-Szymanska, A., Tøndel, C., Vujkovac, B., Weidemann, F., Wijburg, F.A., Woolfson, P., Hollak, C.E.

المصدر: Orphanet Journal of Rare Diseases, vol. 10, no. 1, pp. 36

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25885911; info:eu-repo/semantics/altIdentifier/eissn/1750-1172; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_C8A8921BAB456; https://serval.unil.ch/notice/serval:BIB_C8A8921BAB45Test; urn:issn:1750-1172; https://serval.unil.ch/resource/serval:BIB_C8A8921BAB45.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C8A8921BAB456Test

الإتاحة: https://doi.org/10.1186/s13023-015-0253-6Test
https://serval.unil.ch/notice/serval:BIB_C8A8921BAB45Test
https://serval.unil.ch/resource/serval:BIB_C8A8921BAB45.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_C8A8921BAB456Test