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Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry

Autor: Semplicini, C., de Antonio, M., Taouagh, N., Béhin, A., Bouhour, F., Echaniz-Laguna, A., Magot, A., Nadaj-Pakleza, A., Orlikowski, D., Sacconi, S., Salort-Campana, E., Solé, G., Tard, Celine, Zagnoli, F., Jean-Yves, H., Hamroun, D., Laforêt, P., Attarian, S., Aubé-Nathier, A. C., Arrassi, A., Bassez, G., Bedat-Millet, A. L., Bouibede, F., Boyer, F. C., Caillaud, C., Canal, A., Carlier, R. Y., Chanson, J. B., Chapon, F., Cintas, P., Deibener-Kaminsky, J., Demurger, F., Desnuelle, C., Durieu, I., Eymard, B., Feasson, L., Fournier, M., Froissart, R., Furby, A., Garcia, P. Y., Germain, D. P., Ghorab, K., Morales, R. J., Krim, E., Labauge, P., Lacour, A., Lagrange, E., Lefeuvre, C., Leguy-Seguin, V., Leonard-Louis, S., Magy, L., Masseau, A., Michaud, M., Minot-Myhié, M. C., Nicolas, G., Nollet, S., Not, A., Noury, J. B., Ollivier, G., Péréon, Y., Perez, Thierry, Perniconi, B., Piraud, M., Petiot, P., Pouget, J., Praline, J., Prigent, H., Renard, D., Spinazzi, M., Stojkovic, T., Taithe, F., Tiffreau, Vincent, Vincent, D.

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 2020, Journal of Inherited Metabolic Disease, ⟨10.1002/jimd.12272⟩

Despite a wide clinical spectrum, the adult form of Pompe disease is the most common one, and represents more than 90% of diagnosed patients in France. Since the marketing of enzyme replacement therapy (alglucosidase alfa, Myozyme), all reports to da

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef452b5fe44e007bddb88831d498f8c1
https://hal.univ-lille.fr/hal-04111774

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Assessment of disease progression in dysferlinopathy: a 1-year cohort study

Autor: Moore, U., Jacobs, Marni, James, Meredith K, Mayhew, A. G., Fernandez-Torron, Roberto, Feng, J., Cnaan, A., Eagle, M., Bettinson, K., Rufibach, L. E., Lofra, R. M., Blamire, A. M., Carlier, P. G., Mittal, P., Lowes, L. P., Alfano, L., Rose, K., Duong, T., Berry, K. M., Montiel-Morillo, E., Pedrosa-Hernández, I., Holsten, S., Sanjak, M., Ashida, A., Sakamoto, C., Tateishi, T., Yajima, H., Canal, A., Ollivier, G., Decostre, V., Mendez, J. B., Praxedes, N. S. A., Thiele, S., Siener, C., Shierbecker, J., Florence, J. M., Vandevelde, B., Dewolf, B., Hutchence, M., Gee, R., Prügel, J., Maron, E., Hilsden, Heather, Lochmüller, H., Grieben, U., Spuler, Simone, Rocha, C. T., Day, J. W., Jones, K. J., Bharucha-Goebel, D. X., Salort-Campana, Emmanuelle, Harms, M., Pestronk, Alan, Krause, S., Schreiber-Katz, Olivia, Walter, M. C., Paradas, C., Hogrel, J. Y., Stojkovic, T., Takeda, S., Mori-Yoshimura, M., Bravver, Elena, Sparks, S., Diaz-Manera, Jordi., Bello, Luca, Semplicini, C., Pegoraro, E., Mendell, J. R., Bushby, Kate, Straub, V., Universitat Autònoma de Barcelona

Publikováno v: Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
instname

Jain COS Consortium.
[Objective] To assess the ability of functional measures to detect disease progression in dysferlinopathy over 6 months and 1 year.
[Methods] One hundred ninety-three patients with dysferlinopathy were recruited to the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e203882245b6c4704b1e13b41dad1cae
http://edoc.mdc-berlin.de/17999/1/17999oa.pdf

Projet DYVAH : Dynamique de la végétation et de l'anthropisation dans le haut Vicdessos

Autor: Galop, Didier, Mazier, Florence, Simonneau, A., Rius, D., Faure, E., Le Bars, S., Ollivier, G.

Publikováno v: Séminaire de restitution des projets financés en 2012/2013 de l’OHM Pyrénées Haut Vicdessos
Séminaire de restitution des projets financés en 2012/2013 de l’OHM Pyrénées Haut Vicdessos, Dec 2014, Toulouse, France

National audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::389be48df586aa8664cd97b2bb2da682
https://hal.archives-ouvertes.fr/hal-02977984