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P244: Clinical profiles of 134 patients with alpha-mannosidosis from the velmanase alfa clinical program and SPARKLE registry by Heather Morgan, Nicole Muschol, Julia Hennermann, Martin Magner, Christina Lampe, Monica Lopez-Rodriguez, Katarína Juríčková, Daniela Garavaglia, Chiara Donati, Vito Fichera, Nathalie Guffon
Published 2025-01-01Get full text
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Evolution of mobility, pain/discomfort, self-care, and mental health in patients with alpha-mannosidosis: an international caregiver and patient survey by Karolina M. Stepien, Sophie Thomas, Julia B. Hennermann, Christina Lampe, Nicole M. Muschol, Maria Juliana Ballesta-Martínez, Jordi Cruz, Mónica López-Rodríguez, Anneliese Barth, Martin Magner, Allan M. Lund, Vasilica Plaiasu, Andrea Ballabeni, Francesca Donà, Heather M. Morgan, Nathalie Guffon
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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