Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

Autor: Diaz-Manera, J, Kishnani, PS, Kushlaf, H, Ladha, S, Mozaffar, T, Straub, V, Toscano, A, Van der Ploeg, AT, Berger, KI, Clemens, PR, Chien, YH, Day, JW, Illarioshkin, S, Roberts, M, Attarian, S, Borges, JL, Bouhour, F, Choi, YC, Erdem-Ozdamar, S, Goker-Alpan, O, Kostera-Pruszczyk, A, Haack, KA, Hug, C, Huynh-Ba, O, Johnson, J, Thibault, N, Zhou, TY, Dimachkie, MM, Schoser, B

Publikováno v: LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Background Pompe disease is a rare, progressive neuromuscular disorder caused by deficiency of acid ti-glucosidase (GAA) and accumulation of lysosomal glycogen. We assessed the safety and efficacy of avalglucosidase alfa, a recombinant human GAA enzy

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::8b0b3010b172cb1f1f77454b2c8d67cd
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=7734

P373 Effect size analysis of cipaglucosidase alfa + miglustat versus alglucosidase alfa in ERT-experienced adults with late-onset Pompe disease in PROPEL

Autor: Diaz-Manera, J., Bratkovic, D., Byrne, B., Claeys, K., Dimachkie, M., Kushlaf, H., Kishnani, P., Laforêt, P., Mozaffar, T., Roberts, M., Toscano, A., Castelli, J., Raza, S., Holdbrook, F., Das, S Sitaraman, Wasfi, Y., Schoser, B.

Publikováno v: In Neuromuscular Disorders October 2023 33 Supplement 1:S151-S151

P156 Muscle biopsy findings in a large cohort of patients affected by valosin containing protein disease: preliminary analysis of the international multicentric VCP study

Autor: Schiava, M., Nishino, I., Inoue, M., Nishimori, Y., Saito, Y., Polvikoski, T., Charlton, R., Parkhurst, Y., Henderson, M., Marini-Bettolo, C., Guglieri, M., Straub, V., Weihl, C., Stojkovic, T., Villar-Quiles, R., Romero, N., Evangelista, T., Pegoraro, E., De Bleecker, J., Monforte, M., Malfatti, E., Souvannanorath, S., Severa, G., Alonso-Jiménez, A., Baets, J., De Ridder, W., De Jonghe, P., Kierdaszuk, B., Claeys, K., Muelas, N., Oldfors, A., Rodolico, C., Quin, C., Dominguez, C., Lain, A Herández, Pál, E., Papadimas, G., Kushlaf, H., Alfano, L., Alonso-Pérez, J., Luo, S., Badrising, U., Bevilacqua, J., Nedkova-Hristova, V., Cetin, H., Gelpi, E., Klotz, S., Plana, M Olivé

Publikováno v: In Neuromuscular Disorders October 2023 33 Supplement 1:S138-S139

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Ultrasound diagnosis of bony nerve entrapment: Case series and literature review

Autor: Erra, C, Granata, G, Liotta, G, Podnar, S, Giannini, M, Kushlaf, H, Hobson Webb LD, Leversedge, Fj, Martinoli, Carlo, Padua, L.

Nerve entrapment due to osseous callus formation is a rare complication after bone fracture. Electrodiagnostic studies and routine radiographic imaging often fail to demonstrate the pathology. The diagnosis is difficult and is often made incidentally

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c89ed8b4aba67dad2f765473f71d5c93
http://hdl.handle.net/10807/42222