Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia’s newborn screening programme von Pajares-García, Sonia, González de Aledo-Castillo, José Manuel, Flores-Jiménez, José Eduardo, Collado, Tatiana, Pérez, Judit, Paredes-Fuentes, Abraham José, Argudo-Ramírez, Ana, López-Galera, Rosa María, Prats, Blanca, García-Villoria, Judit

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Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme von Pajares García, Sonia, González de Aledo-Castillo, José Manuel, Flores Jiménez, José Eduardo, Collado, Tatiana, Pérez, Judit, Paredes Fuentes, Abraham José, Argudo Ramírez, Ana, López Galera, Rosa Ma, Prats, Blanca, García Villoria, Judit

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Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2 von Castilla-Vallmanya, Laura, Centeno-Pla, Mónica, Serrano, Mercedes, Franco-Valls, Héctor, Martínez-Cabrera, Raúl, Prat-Planas, Aina, Rojano, Elena, Ranea, Juan A G, Seoane, Pedro, Oliva, Clara, Paredes Fuentes, Abraham José, Marfany i Nadal, Gemma, Artuch, Rafael, Grinberg Vaisman, Daniel Raúl, Rabionet Janssen, Raquel, Balcells Comas, Susana, Urreizti, Roser

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Coenzyme Q10 deficiencies: a group of potentially treatable mitochondrial diseases von Paredes Fuentes, Abraham José

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Estudio de biomarcadores en los defectos de la fosforilación oxidativa mitocondrial y en las deficiencias de coenzima CoQ10 von Paredes Fuentes, Abraham José

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Estudio de biomarcadores en los defectos de la fosforilación oxidativa mitocondrial y en las deficiencias de coenzima CoQ10 von Paredes Fuentes, Abraham José

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Leigh syndrome is the main clinical characteristic of PTCD3 deficiency von Muñoz Pujol, Gerard, Ortigoza Escobar, Juan D, Paredes Fuentes, Abraham José, Jou, Cristina, Ugarteburu López, Olatz, Gort, Laura, Yubero, Delia, Garcia Cazorla, Angels, O'Callaghan, Mar, Campistol Plana, Jaume, Muchart, Jordi, Yépez, Vicente A, Gusic, Mirjana, Gagneur, Julien, Prokisch, Holger, Artuch Iriberri, Rafael, Ribes, Antonia, Urreizti, Roser, Tort, Frederic

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Efficient muscle distribution reflects the positive influence of coenzyme Q10 Phytosome in healthy aging athletes after stressing exercise von Drobnic, F, Riera Riera, Joan, Artuch Iriberri, Rafael, Jou, Cristina, Codina, Anna, Montero, Raquel, Paredes Fuentes, Abraham José, Domingo i Pedrol, Joan Carles, Banquells, Montserrat, Riva, Antonella, Allegrini, Pietro, Petrangolini, Giovanna, Togni, Stefano

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Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation von Morales Painamil, Rodrigo Alfredo, de Aledo-Castillo, José Manuel González, Teresa-Palacio, Marta, Argudo-Ramírez, Ana, López-Galera, Rosa M, Paredes-Fuentes, Abraham J, Aldecoa-Bilbao, Victoria, Alsina-Casanova, Miguel

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Newborn Screening for Sickle Cell Disease in Catalonia between 2015 and 2022-Epidemiology and Impact on Clinical Events von González de Aledo-Castillo, José Manuel, Argudo-Ramírez, Ana, Beneitez-Pastor, David, Collado-Gimbert, Anna, Almazán Castro, Francisco, Roig-Bosch, Sílvia, Andrés-Masó, Anna, Ruiz-Llobet, Anna, Pedrals-Portabella, Georgina, Medina-Santamaria, David, Nadal-Rey, Gemma, Espigares-Salvia, Marina, Coll-Sibina, Maria Teresa, Algar-Serrano, Marcelina, Torrent-Español, Montserrat, Leoz-Allegretti, Pilar, Rodríguez-Pebé, Anabel, García-Bernal, Marta, Solà-Segura, Elisabet, García-Gallego, Amparo, Prats-Viedma, Blanca, López-Galera, Rosa María, Paredes-Fuentes, Abraham J, Pajares García, Sonia, Delgado-López, Giovanna, Blanco-Álvarez, Adoración, Tazón-Vega, Bárbara, Díaz de Heredia, Cristina, Mañú-Pereira, María Del Mar, Marín-Soria, José Luis, García-Villoria, Judit, Velasco-Puyó, Pablo, On Behalf Of The Sickle Cell Disease Newborn Screening Group Of Catalonia

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The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call von Bellusci, Marcello, Paredes-Fuentes, Abraham J, Ruiz-Pesini, Eduardo, Gómez, Beatriz, Martín, Miguel A, Montoya, Julio, Artuch, Rafael

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