P003 The diffusion processes of the CFTR mutations in Brittany (France)

Autor: N. Pellen, G. Bellis, G. Rault, L. Gueganton, C. Belleguic, E. Deneuville, H. Journel, S. Ramel, V. Scotet, C. Ferec

Publikováno v: Journal of Cystic Fibrosis. 19:S55

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::158fc4c7bf2ec7c2cfd7245ff22d871c
https://doi.org/10.1016/s1569-1993(20)30340-4

Effect of enzyme replacement therapy with alglucosidase alfa (Myozyme (R)) in 12 patients with advanced late-onset Pompe disease

Autor: Constantinos Papadopoulos, David Orlikowski, Hélène Prigent, Arnaud Lacour, Céline Tard, Alain Furby, Julien Praline, Guilhem Solé, Jean-Yves Hogrel, Marie De Antonio, Claudio Semplicini, Joelle Deibener-Kaminsky, Pierre Kaminsky, Bruno Eymard, Nadjib Taouagh, Barbara Perniconi, Dalil Hamroun, Pascal Laforêt, G. Bassez, A.-L. Bedat-Millet, A. Behin, B. Eymard, S. Leonard-Louis, T. Stojkovic, A. Canal, V. Decostre, F. Bouhour, F. Boyer, C. Caillaud, Y. Castaing, F. Chapon, P. Cintas, I. Durieu, A. Echaniz-Laguna, L. Feasson, X. Ferrer, R. Froissart, M. Piraud, D. Germain, K. Benistan, N. Guffon-Fouilhoux, H. Journel, P. Labauge, A. Levy, A. Magot, Y. Péréon, M.-C. Minot-Myhié, A. Nadaj-Pakleza, C. Nathier, N. Pellegrini, P. Petiot, F. Lofaso, A. Dutry, D. Renard, S. Sacconi, C. Desnuelle, E. Salort-Campana, J. Pouget, V. Tiffreau, D. Vincent, F. Zagnoli

Publikováno v: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩
Molecular Genetics and Metabolism, Elsevier, 2017, Molecular genetics and metabolism, 122 (1-2), pp.80-85. ⟨10.1016/j.ymgme.2017.06.007⟩

Background The efficacy of enzyme replacement therapy (ERT) in patients at an advanced stage of Pompe disease has only been addressed in a few studies. Our objective was to assess the long term effects of ERT in a cohort of patients with severe Pompe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eca040ef3e520953509b66aeb672813
https://hal.univ-lille.fr/hal-02369159

Résultats à long terme du sphincter urinaire artificiel chez les patients spina bifida de sexe masculin

Autor: Isabelle Bonan, H. Journel, Juliette Hascoet, H. Menard, N. Senal, L. Spiroudhis, Andrea Manunta, Charlène Brochard, B. Peyronnet, X. Gamé, M. Jezequel, Zineddine Khene, Jacques Kerdraon, S. Odent

Publikováno v: Progrès en Urologie. 27:760-761

Objectifs Rapporter les resultats fonctionnels a tres long terme apres implantation d’un sphincter artificiel urinaire (SAU) chez une population d’homme spina bifida. Methodes De 1982 a 2014, 34 patients spina bifida de sexe masculin ayant une in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::afc08b0562828c91ec9d0bf3200487c1
https://doi.org/10.1016/j.purol.2017.07.166

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[Syndromic mental retardation]

Autor: S, Odent, L, Pasquier, C, de la Rochebrochard, H, Journel, L, Lazaro

Publikováno v: Archives de pediatrie : organe officiel de la Societe francaise de pediatrie. 15(5)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c5478c16e5363f71525b502a372462f0
https://pubmed.ncbi.nlm.nih.gov/18582721