Zobrazeno 1 - 3
of 3
pro vyhledávání: '"MESH: Glycogen Storage Disease Type II"'
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⟩
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
https://hal.univ-lille.fr/hal-02369159
Autor:
Véronique Roig-Zamboni, Beatrice Cobucci-Ponzano, Roberta Iacono, Maria Carmina Ferrara, Stanley Germany, Yves Bourne, Giancarlo Parenti, Marco Moracci, Gerlind Sulzenbacher
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2017, 8, pp.1111. ⟨10.1038/s41467-017-01263-3⟩
'Nature Communications ', vol: 8, pages: 1111-1-1111-10 (2017)
Nature Communications, Nature Publishing Group, 2017, 8, pp.1111. 〈10.1038/s41467-017-01263-3〉
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Nature Communications, Nature Publishing Group, 2017, ⟨10.1038/s41467-017-01263-3⟩
Nature communications 8 (2017). doi:10.1038/s41467-017-01263-3
info:cnr-pdr/source/autori:Roig-Zamboni V.; Cobucci-Ponzano B.; Iacono R.; Ferrara M.C.; Germany S.; Bourne Y.; Parenti G.; Moracci M.; Sulzenbacher G./titolo:Structure of human lysosomal acid alpha-glucosidase-A guide for the treatment of Pompe disease/doi:10.1038%2Fs41467-017-01263-3/rivista:Nature communications/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume:8
Nature Communications, 2017, ⟨10.1038/s41467-017-01263-3⟩
Nature Communications, 2017, 8, pp.1111. ⟨10.1038/s41467-017-01263-3⟩
Nature Communications, Nature Publishing Group, 2017, 8, pp.1111. ⟨10.1038/s41467-017-01263-3⟩
'Nature Communications ', vol: 8, pages: 1111-1-1111-10 (2017)
Nature Communications, Nature Publishing Group, 2017, 8, pp.1111. 〈10.1038/s41467-017-01263-3〉
Nature Communications, Vol 8, Iss 1, Pp 1-10 (2017)
Nature Communications, Nature Publishing Group, 2017, ⟨10.1038/s41467-017-01263-3⟩
Nature communications 8 (2017). doi:10.1038/s41467-017-01263-3
info:cnr-pdr/source/autori:Roig-Zamboni V.; Cobucci-Ponzano B.; Iacono R.; Ferrara M.C.; Germany S.; Bourne Y.; Parenti G.; Moracci M.; Sulzenbacher G./titolo:Structure of human lysosomal acid alpha-glucosidase-A guide for the treatment of Pompe disease/doi:10.1038%2Fs41467-017-01263-3/rivista:Nature communications/anno:2017/pagina_da:/pagina_a:/intervallo_pagine:/volume:8
Nature Communications, 2017, ⟨10.1038/s41467-017-01263-3⟩
Nature Communications, 2017, 8, pp.1111. ⟨10.1038/s41467-017-01263-3⟩
Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c82ffd7ffc81e6e645698e18bb52b05
https://hal.archives-ouvertes.fr/hal-01802847/file/s41467-017-01263-3.pdf
https://hal.archives-ouvertes.fr/hal-01802847/file/s41467-017-01263-3.pdf
Autor:
Leonardo Salviati, Claude Desnuelle
Publikováno v:
Current Opinion in Neurology
Current Opinion in Neurology, Lippincott, Williams & Wilkins, 2011, 24 (5), pp.443-8. ⟨10.1097/WCO.0b013e32834a1e00⟩
Current Opinion in Neurology, Lippincott, Williams & Wilkins, 2011, 24 (5), pp.443-8. ⟨10.1097/WCO.0b013e32834a1e00⟩
International audience; PURPOSE OF REVIEW: The first reports published in 2010 on enzyme replacement therapy in late-onset Pompe disease (LOPD) allow us now to stand back and adapt the strategies. In the meantime, substantial progress has been made i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::22aaf055b101ec3c1d9b7d484d95f6cc
https://hal.archives-ouvertes.fr/hal-00756605
https://hal.archives-ouvertes.fr/hal-00756605