Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Nadjib, Taouagh"'
Autor:
Charlotte Dupé, Claire Lefeuvre, Guilhem Solé, Anthony Behin, Corinne Pottier, Fanny Duval, Robert‐Yves Carlier, Hélène Prigent, Jean Lacau St Guily, Azzeddine Arrassi, Nadjib Taouagh, Dalil Hamroun, Guillaume Nicolas, Pascal Laforêt
Publikováno v:
European journal of neurologyREFERENCES. 29(7)
Pompe disease is a rare neuromuscular disorder caused by a deficiency of a lysosomal enzyme, acid α-glucosidase. Macroglossia is a classic clinical sign of several inherited myopathies and has also been reported to occur progressively in late-onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2e3d3e9684a23fd9e23c3f7a7d5491c
https://pubmed.ncbi.nlm.nih.gov/35302691
https://pubmed.ncbi.nlm.nih.gov/35302691
Autor:
Céline, Tard, Emmanuelle, Salort-Campana, Maud, Michaud, Marco, Spinazzi, Aleksandra, Nadaj Pakleza, Hélène, Durr, Françoise, Bouhour, Claire, Lefeuvre, Romain, Thomas, Azzeddine, Arrassi, Nadjib, Taouagh, Guilhem, Solé, Tardieu, M
Publikováno v:
European journal of neurologyREFERENCES. 29(4)
Data on interruption of enzyme replacement therapy (ERT) are scarce in late onset Pompe disease. Due to the COVID-19 crisis, eight neuromuscular reference centers in France were obligated to stop the treatment for 31 patients.We collected the motor a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40514caff1277821504cb8563f884687
https://pubmed.ncbi.nlm.nih.gov/34927321
https://pubmed.ncbi.nlm.nih.gov/34927321
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:
Lefeuvre, Claire, Clément, Guemy, Azzedine, Arrassi, Nadjib, Taouagh, Marie, De Antonio, Nicolas, Guillaume, Laforet, Pascal
Publikováno v:
In Revue Neurologique April 2021 177 Supplement:S78-S78