Browsing by Author Artuch Iriberri, Rafael

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Issue DateTitleAuthor(s)
Dec-2020Annexin A6 is critical to maintain glucose homeostasis and survival during liver regeneration in miceAlvarez Guaita, Anna; Blanco Muñoz, Patricia; Meneses Salas, Elsa; Wahba, Mohamed; Pollock, Abigail; Jose, Jaimy; Casado, Mercedes; Bosch i Rodríguez, Marta; Artuch Iriberri, Rafael; Gaus, Katharina; Lu, Albert; Pol i Sorolla, Albert; Tebar Ramon, Francesc; Moss, SE.; Grewal, Thomas; Enrich Bastús, Carles; Rentero Alfonso, Carles
13-May-2014Biomarcadors del metabolisme de la dopamina en alteracions neurològiques en la infànciaMolero Luis, Marta
1-Oct-2019Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot StudyCasasnovas Pons, Carlos; Ruiz, Montserrat; Schlüter, Agatha; Naudi, Alba; Fourcade, Stéphane; Veciana, Misericordia; Castañer, Sara; Albertí, Antonia; Bargalló Alabart, Núria​; Johnson, Maria; Raymond, Gerald V.; Fatemi, Ali; Moser, Ann B.; Villarroya i Gombau, Francesc; Portero-Otín, Manuel; Artuch Iriberri, Rafael; Pamplona, Reinald; Pujol, Aurora
15-Apr-2016Búsqueda de nuevas estrategias y agentes terapéuticos en enfermedades metabólicas hereditariasMatalonga Borrel, Lesley
18-Dec-2013Cerebrospinal fluid neopterin analysis in neuropediatric patients: establishment of a new cut off-value for the identification of inflammatory-immune mediated processesMolero Luis, Marta; Fernández-Ureña, Sergio; Jordán García, Iolanda; Serrano, Mercedes; Ormazabal Herrero, Aida; Garcia-Cazorla, Àngels; Artuch Iriberri, Rafael; Cambra Lasaosa, Francisco José; Neopterin Workin Group
26-Oct-2020Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.Molero Luis, Marta; Casas Alba, Dídac; Orellana, Gabriela; Ormazabal Herrero, Aida; Sierra, Cristina; Oliva, Clara; Valls, Anna; Velasco, Jesus; Launes Montaña, Cristian; Cuadras, Daniel; Pérez Dueñas, Belén; Jordán García, Iolanda; Cambra Lasaosa, Francisco Jose; Ortigoza Escobar, Juan D.; Muñoz Almagro, Carmen; Garcia-Cazorla, Àngels; Armangue, Thaís; Artuch Iriberri, Rafael
25-May-2021CERKL, a retinal dystrophy gene, regulates mitochondrial function and dynamics in the mammalian retinaMirra, Serena; García-Arroyo, Rocío; Domènech, Elena B.; Gavaldà i Navarro, Aleix; Herrera Úbeda, Carlos; Oliva, Clara; Garcia Fernández, Jordi; Artuch Iriberri, Rafael; Villarroya i Gombau, Francesc; Marfany i Nadal, Gemma
13-Aug-2019Clinical presentation and proteomic signature of patients with TANGO2 mutationsMingirulli, Nadja; Pyle, Angela; Hathazi, Denisa; Alston, Charlotte L.; Kohlschmidt, Nicolai; O'Grady, Gina; Waddell, Leigh; Evesson, Frances; Cooper, Sandra B. T.; Turner, Christian; Duff, Jennifer; Topf, Ana; Yubero, Delia; Jou, Cristina; Nascimento, Andrés; Ortez, Carlos Ignacio; García Cazorla, Angels; Gross, Claudia; O'Callaghan, Maria; Santra, Saikat; Preece, Maryanne A.; Champion, Michael; Korenev, Sergei; Chronopoulou, Efsthatia; Anirban, Majumdar; Pierre, Germaine; McArthur, Daniel; Thompson, Kyle; Navas, Placido; Ribes Rubió, Maria Antònia; Tort, Frederic; Schlüter, Agatha; Pujol Onofre, Aurora; Montero, Raquel; Sarquella, Georgia; Lochmüller, Hanns; Jiménez Mallebrera, Cecilia; Taylor, Robert W.; Artuch Iriberri, Rafael; Kirschner, Janbernd; Grünert, Sarah C.; Roos, Andreas; Horvath, Rita
Jun-2014Determination of hexosamines in urine by HPLC for diagnosis of mucopolysaccharidoses type IIIZamora Campos, Nelson
19-Feb-2010Diagnóstico clínico, bioquímico y molecular en pacientes con defecto del transportador de creatina. Opciones terapéuticasFons Estupiñá, M. Carmen
24-Jun-2019Discovery of biomarker panels for neural dysfunction in inborn errors of amino acid metabolism.Castells, Aina-Alba; Gueraldi, Daniela; Balada Caballé, Rafael; Tristán Noguero, Alba; Cortès i Saladelafont, Elisenda; Ramos, Federico; Meavilla, Silvia; De Los Santos, Mariela; Garcia-Volpe, Camila; Colomé, Roser; Couce, Maria Luz; Sierra, Cristina; Ormazabal Herrero, Aida; Batllori, Marta; Artuch Iriberri, Rafael; Armstrong, Judith; Alcántara Horrillo, Soledad; Garcia-Cazorla, Àngels
30-Oct-2020Disrupted mitochondrial and metabolic plasticity underlie comorbidity between age-Related and degenerative disorders as parkinson disease and type 2 diabetes mellitus.Juárez Flores, Diana Luz; Ezquerra, Mario; González Casacuberta, Ingrid; Ormazabal Herrero, Aida; Morén Núñez, Constanza; Tolosa, Eduardo; Fucho Salvador, Raquel; Guitart Mampel, Mariona; Casado, Mercedes; Valldeoriola Serra, Francesc; Torre Lara, Joan de la; Muñoz García, José Esteban; Tobías Baraja, Ester; Compta, Yaroslau; García García, Francesc J.; García Ruiz, Carmen; Fernández Checa Torres, José Carlos; Martí, Maria J.; Grau Junyent, Josep M. (Josep Maria); Cardellach, Francesc; Artuch Iriberri, Rafael; Fernández Santiago, Rubén; Garrabou Tornos, Glòria
2-Nov-2020Efficient muscle distribution reflects the positive influence of coenzyme Q10 Phytosome in healthy aging athletes after stressing exerciseDrobnic, F.; Riera Riera, Joan; Artuch Iriberri, Rafael; Jou, Cristina; Codina, Anna; Montero, Raquel; Paredes-Fuentes, Abraham J.; Domingo i Pedrol, Joan Carles; Banquells, Montse; Riva, Antonella; Allegrini, Pietro; Petrangolini, Giovanna; Togni, Stefano
2000Errors congènits del metabolisme (ECM).Pàmpols i Ros, Teresa; Arranz, J. A.; Artuch Iriberri, Rafael; Baiget Bastús, Montserrat; Borja, F.; Briones, P.; Casals, T.; Chabás, A.; Coll, M. J.; Rio, E. del; Domínguez, C.; Estivill, Xavier, 1955-; Gallano, Pia; Giròs, Marisa; Martínez, M.; Maya, A.; Milà i Recasens, Montserrat; Margarit, E.; Nunes Martínez, Virginia; Oriola Ambrós, Josep
14-Feb-2012Estudi de l’estat de seleni en sang i en líquid cefaloraquidi de pacients pediàtrics amb malalties neurològiquesTondo i Colomer, Mireia
17-Jun-2016Estudi del coenzim Q10 en pacients neuropediàtrics: avenços diagnòstics i identificació de noves causes d'alteracions secundàriesYubero Siles, Dèlia
11-Feb-2016GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunctionMontero Sánchez, Raquel; Yubero Siles, Dèlia; Villarroya i Terrade, Joan; Henares, Desiree; Jou, Cristina; Rodríguez, María Angeles; Ramos, Federico; Nascimento, Andrés; Ortez, Carlos Ignacio; Campistol Plana, Jaume; Pérez Dueñas, Belén; O'Callaghan, Mar; Pineda Marfà, Mercè; Garcia-Cazorla, Àngels; Oferil, Jaume Colomer; Montoya, Julio; Ruiz Pesini, Eduardo; Emperador, Sonia; Meznaric, Marija; Campderrós Traver, Laura; Kalko, Susana; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Jiménez Mallebrera, Cecilia
22-Jun-2020Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathyDomínguez González, Cristina; Badosa, Carmen; Madruga Garrido, Marcos; Martí, Itxaso; Paradas, Carmen; Ortez, Carlos Ignacio; Díaz Manera, Jordi; Berardo, Andrés; Alonso Pérez, Jorge; Trifunov, Selena; Cuadras, Daniel; Kalko, Susana G.; Blázquez Bermejo, Cora; Cámara Navarro, Yolanda; Martí, Ramon; Mavillard, Fabiola; Martín, Miguel A.; Montoya, Julio; Ruíz Pesini, Eduardo; Villarroya i Terrade, Joan; Montero Sánchez, Raquel; Villarroya i Gombau, Francesc; Artuch Iriberri, Rafael; Hirano, Michio; Nascimento, Andrés; Jiménez Mallebrera, Cecilia
5-Oct-2020Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndromeGarcía Cazorla, Àngels; Verdura, Edgard; Juliá Palacios, Natalia; Anderson, Eric N.; Goicoechea, Leire; Planas Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R.; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M.; Gavrilova, Ralitza H.; SHMT Working Group; Ruiz, Montserrat; Rodríguez Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D.; Zimmermann, Michael T.; Klee, Eric W.; Pandey, Udai Bhan; Artuch Iriberri, Rafael; Cousin, Margot A.; Pujol Onofre, Aurora
24-Oct-2019Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance DiseaseBodoy i Salvans, Susanna; Sotillo, Fernando; Espino-Guarch, Meritxell; Sperandeo, Maria Pia; Ormazabal Herrero, Aida; Zorzano Olarte, Antonio; Sebastio, Gianfranco; Artuch Iriberri, Rafael; Palacín Prieto, Manuel