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Childhood to adult transition in youth patients with lysosomal acid lipase deficiency: 43 recommendations from experts by Alvaro Hermida-Ameijeiras, Javier Blasco-Alonso, Juan Luis Carrillo-Linares, María Luisa González-Dieguez, José Pastor-Rosado, Montserrat Morales-Conejo, Marcello Bellusci, Maria Mercadal-Hally
Published 2025-07-01Get full text
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Current status of the immunogenicity of enzyme replacement therapy in fabry disease by Jorge F. Gómez-Cerezo, Julián Fernández-Martín, Miguel Ángel Barba-Romero, Rosario Sánchez-Martínez, Alvaro Hermida-Ameijeiras, Maria Camprodon-Gómez, Saida Ortolano, Mónica A. Lopez-Rodriguez
Published 2025-05-01Get full text
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Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing by Laura López-Valverde, María E. Vázquez-Mosquera, Cristóbal Colón-Mejeras, J. Víctor Álvarez, Beatriz Martín López-Pardo, Lluis Lis López, Rosario Sánchez-Martínez, Manuel López-Mendoza, Mónica López-Rodríguez, Eduardo Villacorta-Argüelles, María A. Goicoechea-Diezhandino, Francisco J. Guerrero-Márquez, Saida Ortolano, Elisa Leao-Teles, Álvaro Hermida-Ameijeiras, María L. Couce
Published 2025-06-01Get full text
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The organizational dimension in rare and complex diseases care management: an application of RarERN Path© methodology in ataxias, dystonia and phenylketonuria by Sara Cannizzo, Vinciane Quoidbach, Leopoldo Trieste, Monika Benson, Antonio Federico, Alessandro Filla, Bernadette Sheehan Gilroy, Paola Giunti, Holm Graeßner, Julie Greenfield, Tobias Hagedorn, Alvaro Hermida, Barry Hunt, Anita MacDonald, Francesca Morgante, Wolfgang Oertel, Gregory Pastores, Martje G. Pauly, Carola Reinhard, Maja Relja, Eileen Treacy, Francjan Van Spronsen, Julie Vallortigara, Giuseppe Turchetti
Published 2025-06-01Get full text
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