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214 results on '"Leguy-Seguin, V."'

1. Causes de décès dans la maladie de Gaucher de type 1

Author

Deshayes, R., primary, Nguyen, Y., additional, Stirnemann, J., additional, Thierry, B.D.V., additional, Yousfi, K., additional, Zebiche, S., additional, Hamroun, D., additional, Brassier, A., additional, Swiader, L., additional, Dalbies, F., additional, Cador, B., additional, Guemann, A.S., additional, Gaches, F., additional, Leguy-Seguin, V., additional, Pers, Y.M., additional, Pichard, S., additional, Szymanowski, M., additional, Astudillo, L., additional, Nadjar, Y., additional, Serratrice, C., additional, Berger, M.G., additional, Camou, F., additional, Belmatoug, N., additional, and Masseau, A., additional

Published
2024
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2. Patients atteints de maladie de Gaucher non splénectomisés et jamais traités (étude GANT) : suivi prospectif

Author

Serratrice, C., primary, Stirnemann, J., additional, Nguyen, Y., additional, Nasce, A., additional, Yousfi, K., additional, Belmatoug, N., additional, Camou, F., additional, Pettazzoni, M., additional, Dalbies, F., additional, Cador, B., additional, Brassier, A., additional, Hivert, B., additional, Swiader, L., additional, Bertchansky, I., additional, Leguy-Seguin, V., additional, Mauhin, W., additional, Astudillo, L., additional, Hau, R., additional, Humbert, S., additional, Pichard, S., additional, and Berger, M., additional

Published
2024
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3. Surexpression de CD27 et CD28 sur les lymphocytes T CD4 mémoire corrélée au phénotype et au Gb3 au cours de la maladie de Fabry : résultats d’une étude de cytométrie de masse

Author

Mauhin, W., primary, Amelin, D., additional, Lamari, F., additional, Dussol, B., additional, Leguy-Seguin, V., additional, Noel, E., additional, Maillot, F., additional, Ly, K.H., additional, Christian, L., additional, Masseau, A., additional, Matignon, M., additional, Besson, G., additional, Labombarda, F., additional, Lacombe, D., additional, Maillard, H., additional, Lidove, O., additional, and Benveniste, O., additional

Published
2024
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5. Le registre français de la maladie de Gaucher : caractéristiques cliniques, complications, et évolution thérapeutique de 688 patients sur trois décennies

Author

Nguyen, Y., primary, Stirnemann, J., additional, Billette, T., additional, Yousfi, K., additional, Zebiche, S., additional, Hamroun, D., additional, Brassier, A., additional, Swiader, L., additional, Dalbies, F., additional, Cador, B., additional, Guemann, A.S., additional, Gaches, F., additional, Leguy-Seguin, V., additional, Masseau, A., additional, Pers, Y.M., additional, Pichard, S., additional, Szymanowski, M., additional, Astudillo, L., additional, Nadjar, Y., additional, Serratrice, C., additional, Berger, M., additional, Camou, F., additional, and Belmatoug, N., additional

Published
2023
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7. Augmentation de la sphingosine-1-phosphate chez les patients atteints de maladie de Fabry avec phénotype non classique

Author

Mauhin, W., primary, Tebani, A., additional, Amelin, D., additional, Abily-Donval, L., additional, Lamari, F., additional, London, J., additional, Douillard, C., additional, Dussol, B., additional, Leguy-Seguin, V., additional, Noel, E., additional, Masseau, A., additional, Lacombe, D., additional, Maillard, H., additional, Bekri, S., additional, Lidove, O., additional, and Benveniste, O., additional

Published
2022
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9. Long-term benefit of enzyme replacement therapy with alglucosidase alfa in adults with Pompe disease: prospective analysis from the French Pompe Registry

Author

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., Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Unité de Recherche Pluridisciplinaire Sport, Santé, Société (URePSSS) - ULR 7369 - ULR 4488 (URePSSS), and Université d'Artois (UA)-Université du Littoral Côte d'Opale (ULCO)-Université de Lille

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Registry, alglucosidase alfa, Adolescent, [SDV]Life Sciences [q-bio], Walk Test, Disease, Sitting, 03 medical and health sciences, FEV1/FVC ratio, Young Adult, Glycogen storage disease type II, Genetics, medicine, Humans, Respiratory function, Prospective Studies, Registries, Child, Alglucosidase alfa, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, late onset Pompe disease, business.industry, 030305 genetics & heredity, alpha-Glucosidases, Enzyme replacement therapy, Middle Aged, medicine.disease, Respiratory Function Tests, Treatment Outcome, Ceiling effect, Female, France, business, medicine.drug, enzyme replacement therapy
Abstract

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 date in adults demonstrated an improvement of the walking distance, and a trend toward stabilization of respiratory function, but the majority of these studies were less than 5 years of duration. We report here the findings from 158 treated patients included in the French Pompe Registry, who underwent regular clinical assessments based on commonly used standardized tests (6-minute walking test, MFM scale, sitting vital capacity, MIP and MEP). For longitudinal analyses, the linear mixed effects models were used to assess trends in primary endpoints over time under ERT. A two-phase model better described the changes in distance traveled in the 6-minute walk test and MFM. 6MWT showed an initial significant increase (1.4% ± 0.5/year) followed by a progressive decline (-2.3%/year), with a cut-off point at 2.2 years. A similar pattern was observed in total MFM score (6.6% ± 2.3/year followed by a - 1.1%/year decline after 0.5 years). A single-phase decline with a slope of -0.9 ± 0.1%/year (P < .001) was observed for FVC, and MEP remained stable over the all duration of follow-up. This study provides further evidence that ERT improves walking abilities and likely stabilizes respiratory function in adult patients with Pompe disease, with a ceiling effect for the 6MWT in the first 3 years of treatment.

Published
2020
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16. Myocardite au cours du syndrome des anti-synthétases : une manifestation rare. À propos de 2 cas

Author

Billet, A.C., primary, Bonnotte, B., additional, Samson, M., additional, Leguy-Seguin, V., additional, Mouries-Martin, S., additional, Bouvet, R., additional, Muller, G., additional, Turcu, A., additional, Devilliers, H., additional, Besset, Q., additional, Galland, L., additional, Huc, R., additional, Vantard, M., additional, and Bielefeld, P., additional

Published
2019
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17. Une pseudotumeur rénale

Author

Maldiney, T., primary, Leguy-Seguin, V., additional, Prevel, O., additional, Rajillah, A., additional, Thibault, T., additional, Chabannes, M., additional, Nicolas, B., additional, Guilhem, A., additional, Berthier, S., additional, Audia, S., additional, Samson, M., additional, and Bonnotte, B., additional

Published
2019
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25. Une cause rare de syndrome dysautonomique

Author

Schmitt, M., primary, Samson, M., additional, Leguy-Seguin, V., additional, Robert, R., additional, Berthier, S., additional, Nicolas, B., additional, Guilhem, A., additional, Jacquin, A., additional, Lakomy, D., additional, Cottin, Y., additional, Audia, S., additional, and Bonnotte, B., additional

Published
2016
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30. Dissection aortique traitée par corticothérapie

Author

Jacquier, M., primary, Samson, M., additional, Audia, S., additional, Leguy-Seguin, V., additional, Berthier, S., additional, Nicolas, B., additional, Falvo, N., additional, Guilhem, A., additional, Krause, D., additional, Loffroy, R., additional, Steinmetz, E., additional, and Bonnotte, B., additional

Published
2016
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31. Une cause rare de monocytopénie…

Author

Maillet, T., primary, Samson, M., additional, Guilhem, A., additional, Nicolas, B., additional, Leguy-Seguin, V., additional, Berthier, S., additional, Bonnotte, B., additional, and Audia, S., additional

Published
2016
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33. DUO Registry Group. Functional impairment of systemic scleroderma patients with digital ulcerations: results from the DUO Registry

Author

Guillevin, L, Hunsche, E, Denton, Cp, Krieg, T, Schwierin, B, Rosenberg, D, Matucci Cerinic, M, DUO Registry Group Collaborators Raffier, B, Hirschi, M, Trautinger, F, Schmidt, P, Stetter, M, Hundstorfer, M, Reinhart, V, Monshi, B, Pirkhammer, D, Richter, L, Hamberger, N, Metz, S, Feldmann, R, Semmelweis, K, Lackner, K, Tomi, N, Kolle, H, Hafner, F, Brodmann, M, Kuen Spiegel, M, Minmair, G, Heil, Pm, Broil, H, Holzer, G, Illmer, X, Rintelen, B, Sautner, J, Takacs, M, Thun, M, Zemanova, I, Soukup, T, Smrzova, A, Bohmova, J, Prochazkova, L, Nemec, P, Fojtik, Z, Suchy, D, Becvar, R, Olsen, Ab, Sondergaard, Kh, Luosu jarvi, R, Vidqvist, Kl, Madaule, S, Beneton, N, Maillard, H, Charlanne, H, Granelbrocard, F, Hachulla, E, Hatron, Py, Jourdain, N, Lambert, M, Launay, D, Morell, S, Woijtasik, G, Skowron, F, Zenone, T, Dadban, A, Lok, C, Ferrandiz, D, Magybertrand, N, Moiton, Mp, Taieb, A, Balquiere, S, Belin, E, Droitcourt, C, Julien, S, Prey, S, Boulon, C, Constans, J, Doutre, Ms, Kostrzwewa, E, Richez, C, Greco, M, Misery, L, Sassolas, B, Collet, E, Berthier, S, Leguy Seguin, V, Imbert, B, Carpentier, P, Blaise, S, Couraud, A, Doeffel Hantz, V, Spars, A, Bezanahary, H, Boussely, N, Dumonteil, S, Fauchais, Al, Goudran, G, Loustaud Ratti, V, Manea, P, Vidal, E, Coppere, B, Desmursclavel, H, Girard Madoux MH, Hot, A, Ninet, J, Granel, B, Cohen, Jd, Keynote, A, Khau van Kien, A, Le Quellec, A, Riviere, S, Rullier, P, Bessis, D, Farcas, C, Bravetti, V, Moline, T, Wahl, D, Zuily, S, Granel Brocard, F, Agard, C, Durant, C, Fuzibet, Jg, Queyrel, V, Berezne, A, Mouthon, L, Cabane, J, Tiev, K, Toledano, C, Lazareth, I, Michon Pasturel, U, Priollet, P, Reguiai, Z, Cazaletslacoste, C, Jego, P, Letremy, A, Perlat, A, Duval Modeste AB, Chatelus, E, Chiffot, H, Sibillia, J, Sordet, C, Adoue, D, Couret, B, Moulis, G, Pugnet, G, Sailler, L, Diot, E, Gaches, F, Farge, D, Keshtmand, H, Frances, C, von Elling, A, Bora, D, Ebel, J, Ahmadi Simab, K, Klein, E, Hahn, K, Schulze, K, Rasche, C, Riemekasten, G, Lee, Hh, Deuschle, K, Mattat, K, Becker, M, Worm, M, Mensing, C, Klings, D, Mensing, H, Messall, J, Zuper, R, Eilbacher, P, Saar, P, Kaufmann, P, Hallermann, C, Schmidt, K, Wahn, H, Schildt, K, Schuart, T, Kaczmarczyk, A, Kellner, C, von Oelhafen, J, Baron von Bildering, P, Kunze, S, Kleiner, Hj, Alsheimer, B, Schuetz, N, Miirker Hermann, E, Gottl, Kh, Weiss, E, Reischel, N, Kern, S, Goettl, Kh, Goetheuniversitiitsklinikum, Jw, Himsel, A, Henkemeier, U, Schwarting, A, Hazenbiller, A, Nichelmann, V, Rumbaur, C, Boesenberg, I, Schmeiser, T, Mueller Ladner, U, Unholzer, A, Starz, H, Welzel, J, Plaumann, K, Stoeckl, F, Sperling, S, Podda, M, Wagner, N, Rapprich, H, Niedermeier, A, Messer, G, Sardy, M, Bekou, V, Dill MUller, D, Wlodarz, M, Belloni, B, Huettig, B, Ziai, M, Hein, R, Kneitz, C, Federow, I, Schneider, K, Semmler, M, Hapke, S, Metzler, C, Stein, T, Enderlein, M, Kayser, M, Werthmann, M, Guenther, Cu, Neul, S, Hellmich, B, Loeffler, C, Pflugfelder, J, Karaenke, P, Mueglich, C, Tony, Hp, Marina, P, Popp, M, Mittag, M, Baumann, C, Scheib, Eg, Brand, H, Wilhelm, Hu, Bohm, J, Dyballa, J, Boehm, J, Taggeselle, J, Luthke, K, Wuerzburg, I, Niefanger, K, Mayer, L, Drabek, J, Harmuth, W, Dietl, S, Moritz, D, Gause, A, Gaubitz, M, Hallecker, A, Krupp, E, Rumpel, H, Moosig, F, Frey, P, Kahl, S, Linke, M, Merk, B, Bloching, Hh, Ochs, W, Kurthen, R, Eiden, E, Guertler, I, Aries, Pm, Kirchberg, S, Jahnke, K, Mettler, S, Toeller, S, Zwenger, S, Langer, He, Deininger, F, Hartmann, F, Neeck, G, Neek, G, Wernitzsch, H, Meier, L, Herr, U, Meier, U, Aaig, W, Bruckner, L, Sheikh, N, Wollenhaupt, J, Krog, B, Wollersdorfer, E, Hall, R, Diehm, C, Tiggers, C, Peters, J, Kirschke, J, Schroeder, Jo, Zeuner, R, Uhlig, S, Barth, S, Huegel, R, Glaeser, R, Schaefer, C, Monshausen, M, Mengden, T, Funkert, A, Blank, N, Lupaschko, S, Voss, B, Megahed, M, Sadeghlar, F, Seidel, M, Wasmuth, Jc, Kreuter, A, Vosswinkel, J, Pfoehler, C, Gerber, A, Haust, M, Hoff, Np, Mota, R, Akanay Diesel, S, Homey, B, Katzemich, A, Erfurt Berge, C, Sticherling, M, Beyer, C, Distler, J, Mitchell, A, Freundlieb, C, Rushentsova, U, Hermanns, G, Blaschke, S, Fiene, M, Wessel, C, Norgauer, J, Rabe, B, Schuster, J, Scholz, J, Kremer, K, Robakidze Torbahn, M, Moinzadeh, P, Dohse, A, Muhlack, A, Schultz, L, Schult, S, Frambach, Y, Kruse, S, Kettenbach, A, Fell, I, Schweda, K, Steinbrink, K, Podobinska, M, Fieri beck, G, Schanz, S, Pfeiffer, C, Hassel, R, Herrgott, I, Sunderkoetter, C, Guenzel, J, Athanassiou, P, Dimitroulas, T, Settas, L, Kritikos, I, Tsifetaki, N, Garyfallos, A, Vasilopoulos, D, Boura, P, Kamali, S, Aslanidis, S, Vlachoyannopoulos, P, Galanopoulo, V, Sakkas, L, Koutroubas, A, Elezoglou, T, Galanopoulos, N, Grier, A, Murray, M, O'Rourke, M, Del Papa, N, Maglione, W, Zeni, S, Foti, R, Benenati, A, De Vita, S, Ferraccioli, G, Grassi, W, de Angeli, R, Pomponio, G, Mussi, A, Colonna, L, Airo, P, Zingarelli, S, Scorza, R, Serverino, A, Puppo, F, Negrini, S, Roma, I, Salsano, F, Triolo, G, Mazzuca, S, Carignola, R, Gatti, S, Lunardi, G, Riccieri, V, Salvarani, C, Bajocchi, G, Varcasia, G, Marasini, B, Belloll, L, de Luca, R, Stisi, S, Bellissimo, S, Fusaro, E, Pellerito, R, Cozzi, F, Rizzo, M, Bartoluzzi, A, Trotta, F, Cantatore, F, Corrado, A, Ferri, Claudio, Colaci, M, Malavolta, N, Mule, R, Galeazzi, M, Lapadula, G, Mathieu, A, Vacca, A, Giacomelli, Roberto, Cipriani, Paola, Montecucco, Cm, Codullo, V, Bucci, R, Battaglia, E, Valentini, G, Cuomo, G, Terlizzi, N, Serafino, L, Reumatologia, Uo, Bombardieri, S, Della Rossa, A, Doveri, M, Perricone, R, de Mattia, M, Pallotta, S, Groenendael, Jh, Seys, P, Goekoop, Rj, Han, Kh, Wlarvens, M, Bonte Mineur, F, de Bois MH, de Beus WM, van Zeben, D, Vonk, M, Knaapen, Hk, Smit, A, Bootsma, H, Ton, E, Voskuyl, A, Dutmer, Ea, Stalk, Jn, Madland, Tm, Seip, M, Hoffmann Vold AM, Bitter, H, Stocklund Thomsen, R, Resende, C, Ponte, C, Martinho, S, Silva, F, Ferreira, P, Grilo, A, Riso, N, Santos, C, Camara, I, Costa, J, Alves, J, Oliveira, S, Almeida, I, Silva, I, Cordeiro, A, Coelho, P, Lukac, J, Dolnicar, As, Espinosa, G, Mejia, Jc, Ramos, M, Plasin Rodriguez MA, Mera, A, Blanco, Js, Diaz, Jj, Losada, L, Perez, E, Maneiro, Jr, Caamano, M, Fermindez, S, Insua, Sa, Barbado, J, Fonseca, Em, Nufio, Fj, Castellvi, I, Garcia de Ia Pena, P, Bellido, D, Paulino, M, Garcia, Pv, Salas, V, Minguez, Md, Sanchez, Ma, Urrego, C, Martin, I, Rueda, A, Calvo, J, Ripoll, Mm, Torres, Mc, Corteguera, M, Maceiras, F, Cruz, J, Mosquera, Ja, Gomez, R, Area, B, Carrio, I, Rubio, M, Castellvi Barranco, I, Santos, P, Simeon, Cp, Fonollosa, V, Egurbide, Mv, Garcia de Vicuna, R, Vicente, E, Villaverde, V, Fernandez, C, Garcia, E, Uson, J, Miguelez, R, Callejas, Jl, Ortego, N, Roman, J, Alegre Sancho JJ, Robles, A, Rios, Jj, Bonilla, Mg, Sanchez Andrade, A, Vazquez, Tr, Miranda, Ja, Saez, L, Zea, A, De la Puente, C, Martinez, Fg, Aguirre, Ma, Collado, P, Cruz, A, Crespo, M, Sanchez Roman, J, Castillo, Mj, Garcia, Am, Muniz, G, Hedin, Pj, Stahl, C, Bracin, T, Nordin, A, Albertsson, K, Rydvald, Y, Thorsson, C, Hermansson, E, Maurer, B, Verner, D, Schmidt Bosshard, R, Hall, F, Murphy, K, Lamb, J, Anderson, M, Moots, R, Buch, M, Bissell, L, Madhok, R, Hampson, R, D'Cruz, D, Choong, Lm, Gordon, P, Dobson, J, Salerno, R, Nisar, M, Williams, C, Wilcox, L, Denton, C, Ochiel, R, Ngcozana, T, Parker, L, Vincent, R, Mchugh, N, Cole, S, Brown, S, James, J, Herrick, A, Manning, J, Moore, T, Faizal, A, Skyes, H, Smythe, A, and Hamilton, A.

Published
2013

38. Fasciite de Shulman et aplasie médullaire idiopathique : description de quatre cas et revue de 19 cas de la littérature

Author

De Masson, A., primary, Bouaziz, J.-D., additional, Peffault de Latour, R., additional, Benhamou, Y., additional, Moluçon-Chabrot, C., additional, Bay, J.-O., additional, Laquerrière, A., additional, Picquenot, J.-M., additional, Michonneau, D., additional, Leguy-Seguin, V., additional, Bonnotte, B., additional, Jardin, F., additional, Lévesque, H., additional, Socié, G., additional, Bagot, M., additional, and Rybojad, M., additional

Published
2013
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47. Les dessous CHICS du méthotrexate

Author

Couturier, M., primary, Nicolas, B., additional, Audia, S., additional, Nguyen, A., additional, Leguy-Seguin, V., additional, Bonniaud, B., additional, Bonnotte, B., additional, and Lorcerie, B., additional

Published
2012
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