Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Najya Bedreddine"'
Autor:
Dominique P. Germain, Alice Porto Vasconcelos, Lien Tran Thi Phuong, Najya Bedreddine, Mihaela Turcan, Wenting Trang, Lynda Barache
Publikováno v:
Biomedicines, Vol 12, Iss 11, p 2578 (2024)
Background: The multisystem manifestations of Fabry disease can create major challenges in patient care. Although enzyme replacement therapy with recombinant agalsidase beta has demonstrated clinical benefits, the standard fortnightly, multi-hour inf
Externí odkaz:
https://doaj.org/article/84abcc25d019449bba3242463981b215
Autor:
Esther Noël, Bertrand Dussol, Didier Lacombe, Najya Bedreddine, Alain Fouilhoux, Pierre Ronco, Delphine Genevaz, Soumeya Bekri, Albert Hagège, Frédérique Dupuis-Siméon, Valérie Derrien Ansquer, Dominique P. Germain, Olivier Lidove
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)
Abstract Background Fabry disease (FD) is a rare, X-linked, inherited lysosomal disease caused by absent or reduced α-galactosidase A activity. Due to the heterogeneity of disease presentation and progression, generic patient-reported outcome (PRO)
Externí odkaz:
https://doaj.org/article/4210a76ed42d4506993ea3ff869e78ae
Autor:
Noël, Esther, Dussol, Bertrand, Lacombe, Didier, Najya Bedreddine, Fouilhoux, Alain, Ronco, Pierre, Genevaz, Delphine, Soumeya Bekri, Hagège, Albert, Dupuis-Siméon, Frédérique, Ansquer, Valérie Derrien, Germain, Dominique, Lidove, Olivier
Additional file 1: Table S1. An excerpt from the conceptual tree, illustrating the conceptual framework from which the questionnaire was derived. Table S2. Step II and Step III: patient characteristics. Table S3. PNQ Fabry (final version – 26 items
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd22db926438c441884fc3dc42e18b9
Autor:
Olivier Lidove, Dominique P. Germain, Alain Fouilhoux, Soumeya Bekri, Didier Lacombe, Pierre Ronco, Esther Noel, Najya Bedreddine, Delphine Genevaz, Frédérique Dupuis-Siméon, Bertrand Dussol, Valérie Derrien, Albert Hagège
Publikováno v:
Molecular Genetics and Metabolism. 126:S110
Anderson-Fabry disease (FD) is a rare X-linked inherited lysosomal disease caused by reduced activity of α-galactosidase A. Due to the heterogeneity of disease presentation and evolution, patient-reported outcome (PRO) tools, such as SF-36, do not p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e24783c420c192833a6a14eeb1570da6
https://doi.org/10.1016/j.ymgme.2018.12.278
https://doi.org/10.1016/j.ymgme.2018.12.278