Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Lydie Renault"'
Autor:
Ida Vanessa D. Schwartz, Özlem Göker-Alpan, Priya S. Kishnani, Ari Zimran, Lydie Renault, Zoya Panahloo, Patrick Deegan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 73-79 (2018)
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited unde
Externí odkaz:
https://doaj.org/article/e2b36f5e15fe453fa8d63c1faf004242
Autor:
Isabelle Desguerre, F. Khan, Janbernd Kirschner, John W. Day, Richard S. Finkel, Marcus Droege, Perry B. Shieh, Frederick A. Anderson, Kayoko Saito, Omar H. Dabbous, Laurent Servais, Eugenio Mercuri, Susana Quijano-Roy, Eduardo F. Tizzano, Darryl C. De Vivo, Francesco Muntoni, Lydie Renault
Publikováno v:
Journal of Neuromuscular Diseases
Background: Dramatic improvements in spinal muscular atrophy (SMA) treatment have changed the prognosis for patients with this disease, leading to important new questions. Gathering representative, real-world data about the long-term efficacy and saf
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7fe98ad4ccccd6d27fd74c4ebdab2ac
http://europepmc.org/articles/PMC7739962
http://europepmc.org/articles/PMC7739962
Autor:
Zoya Panahloo, Ida Vanessa Doederlein Schwartz, Ari Zimran, Lydie Renault, Ozlem Goker-Alpan, Priya S. Kishnani, Patrick Deegan
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 14, Iss C, Pp 73-79 (2018)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
The Gaucher Outcome Survey (GOS) is an international disease-specific registry established in 2010 for patients with a confirmed diagnosis of Gaucher disease (GD), regardless of GD type or treatment status. Historically, there has been a limited unde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2374faafcaab66d7e6a835cbcf84c57
http://www.sciencedirect.com/science/article/pii/S2214426917301416
http://www.sciencedirect.com/science/article/pii/S2214426917301416
Autor:
Zoya Panahloo, Ari Zimran, Ida Vanessa Doederlein Schwartz, Patrick Deegan, Priya S. Kishnani, Lydie Renault, Ozlem Goker-Alpan
Publikováno v:
Molecular Genetics and Metabolism. 120:S120-S121
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f43ae076a07e9214306f4a58b8c2d081
https://doi.org/10.1016/j.ymgme.2016.11.312
https://doi.org/10.1016/j.ymgme.2016.11.312
Autor:
Linda Abetz-Webb, Marcus Maurer, Sandra C. Christiansen, Teresa Caballero, Lydie Renault, Bruce L. Zuraw, Nicola Bonner, Hilary Longhurst
Publikováno v:
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Health and Quality of Life Outcomes
Consejería de Sanidad de la Comunidad de Madrid
Health and Quality of Life Outcomes
Background Hereditary Angioedema (HAE), a rare genetic disease, manifests as intermittent, painful attacks of angioedema. Attacks vary in frequency and severity and include skin, abdominal and life-threatening laryngeal swellings. This study aimed to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6cd52a9f910347ad916bb86f659daa9
https://hdl.handle.net/20.500.12530/21405
https://hdl.handle.net/20.500.12530/21405
Autor:
Patrick Deegan, Deborah Elstein, Dylan Supina, Ida Vanessa Doederlein Schwartz, Lydie Renault, Ozlem Goker-Alpan, Nadia Belmatoug, Neal J. Weinreb
Publikováno v:
Molecular Genetics and Metabolism. 114:S41-S42
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b9cfe2c8e2ebc4868b6f38dd54c166ed
https://doi.org/10.1016/j.ymgme.2014.12.078
https://doi.org/10.1016/j.ymgme.2014.12.078