Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

por Pintos-Morell, Guillem, Blasco-Alonso, Javier, Couce, María L., Gutiérrez-Solana, Luís G., Guillén-Navarro, Encarna, O'Callaghan, Mar, del Toro, Mireia
Publicado 2018

A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project – a 2-year follow-up study

por Colón, Cristóbal, Alvarez, J. Victor, Castaño, Cristina, Gutierrez-Solana, Luís G., Marquez, Ana M., O’Callaghan, María, Sánchez-Valverde, Félix, Yeste, Carmen, Couce, María-Luz
Publicado 2017

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG)

por Serrano, Natalia Lourdes, De Diego, Victor, Cuadras, Daniel, Martinez Monseny, Antonio F., Velázquez-Fragua, Ramón, López, Laura, Felipe, Ana, Gutiérrez-Solana, Luis G., Macaya, Alfons, Pérez-Dueñas, Belén, Serrano, Mercedes
Publicado 2017

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next‐generation sequencing gene panel

por Muñoz, Gloria, García‐Seisdedos, David, Ciubotariu, Crina, Piris‐Villaespesa, Miguel, Gandía, Marta, Martín‐Moro, Fernando, Gutiérrez‐Solana, Luis G., Morado, Marta, López‐Jiménez, Javier, Sánchez‐Herranz, Antonio, Villarrubia, Jesús, del Castillo, Francisco J.
Publicado 2019

Stroke-Like Episodes and Cerebellar Syndrome in Phosphomannomutase Deficiency (PMM2-CDG): Evidence for Hypoglycosylation-Driven Channelopathy

por Izquierdo-Serra, Mercè, Martínez-Monseny, Antonio F., López, Laura, Carrillo-García, Julia, Edo, Albert, Ortigoza-Escobar, Juan Darío, García, Óscar, Cancho-Candela, Ramón, Carrasco-Marina, M Llanos, Gutiérrez-Solana, Luis G., Cuadras, Daniel, Muchart, Jordi, Montero, Raquel, Artuch, Rafael, Pérez-Cerdá, Celia, Pérez, Belén, Pérez-Dueñas, Belén, Macaya, Alfons, Fernández-Fernández, José M., Serrano, Mercedes
Publicado 2018

ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

por Schlüter, Agatha, Vélez-Santamaría, Valentina, Verdura, Edgard, Rodríguez-Palmero, Agustí, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Launay, Nathalie, Guilera, Cristina, Martínez, Juan José, Homedes-Pedret, Christian, Albertí-Aguiló, M. Antonia, Zulaika, Miren, Martí, Itxaso, Troncoso, Mónica, Tomás-Vila, Miguel, Bullich, Gemma, García-Pérez, M. Asunción, Sobrido-Gómez, María-Jesús, López-Laso, Eduardo, Fons, Carme, Del Toro, Mireia, Macaya, Alfons, Beltran, Sergi, Gutiérrez-Solana, Luis G., Pérez-Jurado, Luis A., Aguilera-Albesa, Sergio, de Munain, Adolfo López, Casasnovas, Carlos, Pujol, Aurora
Publicado 2023

Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

por Schlüter, Agatha, Rodríguez-Palmero, Agustí, Verdura, Edgard, Vélez-Santamaría, Valentina, Ruiz, Montserrat, Fourcade, Stéphane, Planas-Serra, Laura, Martínez, Juan José, Guilera, Cristina, Girós, Marisa, Artuch, Rafael, Yoldi, María Eugenia, O'Callaghan, Mar, García-Cazorla, Angels, Armstrong, Judith, Marti, Itxaso, Mondragón Rezola, Elisabet, Redin, Claire, Mandel, Jean Louis, Conejo, David, Sierra-Córcoles, Concepción, Beltrán, Sergi, Gut, Marta, Vázquez, Elida, del Toro, Mireia, Troncoso, Mónica, Pérez-Jurado, Luis A., Gutiérrez-Solana, Luis G., López de Munain, Adolfo, Casasnovas, Carlos, Aguilera-Albesa, Sergio, Macaya, Alfons, Pujol, Aurora
Publicado 2022