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Novel DES mutation presenting with isolated restrictive respiratory failure. Expanding the clinical spectrum by J. Alonso-Pérez, O. Barrachina-Esteve, L. González-Quereda, M.L. Viguera-Martinez, M. Luján-Torné, M. Guitart-Feliubadaló, J. Miguel Martínez, Á. Carbayo, P. Gallano, J. Díaz-Manera, M. Olivé, R. Rojas-Garcia
Published 2025-06-01Get full text
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20947. ANÁLISIS DEL TAMAÑO DEL EFECTO DE CIPAGLUCOSIDASA ALFA MÁS MIGLUSTAT FRENTE A ALGLUCOSIDASA-ALFA EN ADULTOS CON ENFERMEDAD DE POMPE DE INICIO TARDÍO PRETRATADOS CON TERAPIA... by A. Aguinaga-Barrilero, J. Alonso Pérez, D. Bratkovic, B. Byrne, K. Claeys, P. Clemens, J. Díaz Manera, M. Dimachkie, P. Kishnani, H. Kushlaf, M. Roberts, A. Toscano, J. Castelli, F. Holdbrook, S. Sitaraman Das, T. Mozaffar, B. Schoser
Published 2024-11-01Get full text
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2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement... by A. Peck, A. Dadi, Z. Yavarow, L.N. Alfano, D. Anderson, M.R. Arkin, T.F. Chou, E.S. D'Ambrosio, J. Diaz-Manera, J.P. Dudley, A.G. Elder, N. Ghoshal, C.E. Hart, M.M. Hart, D.M. Huryn, A.E. Johnson, K.B. Jones, V. Kimonis, E. Kiskinis, E.B. Lee, T.E. Lloyd, M. Mapstone, A. Martin, H. Meyer, T. Mozaffar, C.U. Onyike, G. Pfeffer, A. Pindon, M. Raman, I. Richard, D.C. Rubinsztein, M. Schiava, A.K. Schütz, P.S. Shen, D.R. Southworth, A.M. Staffaroni, M. Taralio-Gravovac, C.C. Weihl, Q. Yao, Y. Ye, N. Peck
Published 2025-04-01Get full text
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