Zobrazeno 1 - 10 of 154 pro vyhledávání: '"H. Journel"'
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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
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5
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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6
Progressive osseous heteroplasia: a model for the imprinting effects of GNAS inactivating mutations in humans
Autor: A. Coëslier Dieux, Genevieve Abeguile, Jean-Pierre Salles, H. Journel, A. Taieb, M. Lebrun, Didier Lacombe, Nicolas Richard, S. Gandon-Laloum, S. Odent, Albert David, Marie-Laure Kottler, G. Pinto
Publikováno v: Journal of Clinical Endocrinology and Metabolism
Journal of Clinical Endocrinology and Metabolism, 2010, 95 (6), pp.3028-38. ⟨10.1210/jc.2009-1451⟩
Journal of Clinical Endocrinology and Metabolism, Endocrine Society, 2010, 95 (6), pp.3028-38. ⟨10.1210/jc.2009-1451⟩
Context: Heterozygous GNAS inactivating mutations are known to induce pseudohypoparathyroidism type 1a when maternally inherited and pseudopseudohypoparathyroidism when paternally inherited. Progressive osseous heteroplasia (POH) is a rare disease of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa8694bbd52f7ce5894ae26979553072
https://www.hal.inserm.fr/inserm-00480041/document
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