Browsing by Author Artuch Iriberri, Rafael
Showing results 10 to 29 of 37
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| Issue Date | Title | Author(s) |
|---|---|---|
| Jun-2014 | Determination of hexosamines in urine by HPLC for diagnosis of mucopolysaccharidoses type III | Zamora Campos, Nelson |
| 10-Jan-2022 | Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization | Schlüter, Agatha; Rodríguez Palmero, Agustí; Verdura, Edgard; Vélez Santamaría, Valentina; Ruiz, Montserrat; Fourcade, Stephane; Planas Serra, Laura; Martínez, Juan José; Guilera, Cristina; Girós, Marisa; Artuch Iriberri, Rafael; Yoldi, María Eugenia; O'Callaghan, Mar; García Cazorla, Àngels; Armstrong, Judith; Marti, Itxaso; Mondragón Rezola, Elisabet; Redin, Claire; Mandel, Jean Louis; Conejo, David; Sierra Córcoles, Concepción; Beltran, Sergi; Gut, Marta; Vázquez, Elida; Toro, Mireia del; Troncoso, Mónica; Pérez Jurado, Luis; Gutiérrez Solana, Luis G.; López de Munain, Adolfo; Casasnovas Pons, Carlos; Aguilera Albesa, Sergio; Macaya, Alfons; Pujol, Aurora; GWMD working group |
| 19-Feb-2010 | Diagnóstico clínico, bioquímico y molecular en pacientes con defecto del transportador de creatina. Opciones terapéuticas | Fons Estupiñá, M. Carmen |
| 24-Jun-2019 | Discovery 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-2020 | Disrupted 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, Ester; Compta, Yaroslau; García-García, Francesc Josep; García Ruiz, Carmen; Fernández Checa Torres, José Carlos; Martí Domènech, Ma. Josep; Grau Junyent, Josep M. (Josep Maria); Cardellach, Francesc; Artuch Iriberri, Rafael; Fernández Santiago, Rubén; Garrabou Tornos, Glòria |
| 2-Nov-2020 | Efficient muscle distribution reflects the positive influence of coenzyme Q10 Phytosome in healthy aging athletes after stressing exercise | Drobnic, F.; Riera Riera, Joan; Artuch Iriberri, Rafael; Jou, Cristina; Codina, Anna; Montero, Raquel; Paredes-Fuentes, Abraham J.; Domingo i Pedrol, Joan Carles; Banquells, Montserrat; Riva, Antonella; Allegrini, Pietro; Petrangolini, Giovanna; Togni, Stefano |
| 2000 | Errors 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-2012 | Estudi de l’estat de seleni en sang i en líquid cefaloraquidi de pacients pediàtrics amb malalties neurològiques | Tondo i Colomer, Mireia |
| 17-Jun-2016 | Estudi del coenzim Q10 en pacients neuropediàtrics: avenços diagnòstics i identificació de noves causes d'alteracions secundàries | Yubero Siles, Dèlia |
| 1-Dec-2022 | Estudio de biomarcadores en los defectos de la fosforilación oxidativa mitocondrial y en las deficiencias de coenzima CoQ10 | Paredes Fuentes, Abraham José |
| 1-Jul-2023 | Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number | Oliva, Clara; Arias, Ángela; Ruiz, Montserrat;; Pujol Onofre, Aurora; Garrabou Tornos, Glòria; Cantó Santos, Judith; Urreizti, Roser; Castilla Vallmanya, Laura; Rodríguez González, Helena; Jou, Cristina; Casado Río, Mercedes; Ormazabal Herrero, Aida; Artuch Iriberri, Rafael |
| 11-Feb-2016 | GDF-15 is elevated in children with mitochondrial diseases and is induced by mitochondrial dysfunction | Montero 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-2020 | Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy | Domínguez 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-2020 | Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome | García 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-2019 | Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease | Bodoy 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 |
| 6-Feb-2023 | IPSC‐based modeling of THD recapitulates disease phenotypes and reveals neuronal malformation | Tristá Noguero, Alba; Fernández Carasa, Irene; Calatayud, Carles; Bermejo Casadesús, Cristina; Pons Espinal, Meritxell; Colini Baldeschi, Arianna; Campa, Leticia; Artigas, Francesc; Bortolozzi, Analia; Domingo Jiménez, Rosario; Ibáñez, Salvador; Pineda, Mercè; Artuch Iriberri, Rafael; Raya, Ángel; García Cazorla, Àngels; Consiglio, Antonella |
| 12-Sep-2021 | Kynurenine pathway in post-mortem prefrontal cortex and cerebellum in schizophrenia: relationship with monoamines and symptomatology | Ben Afia, Amira; Vila, Èlia; MacDowell, Karina S.; Ormazabal Herrero, Aida; Leza, Juan Carlos; Haro Abad, Josep Maria; Artuch Iriberri, Rafael; Ramos Josemaría, Belén; García Bueno, Borja |
| 30-Nov-2022 | Leigh syndrome is the main clinical characteristic of PTCD3 deficiency | Muñoz Pujol, Gerard; Ortigoza Escobar, Juan D.; Paredes Fuentes, Abraham J.; Jou, Cristina; Ugarteburu López, Olatz; Gort, Laura; Yubero, Delia; Garcia Cazorla, Angels; O'Callaghan, Mar; Campistol, Jaume; Muchart, Jordi.; Yépez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch Iriberri, Rafael; Ribes, Antonia; Urreizti, Roser; Tort, Frederic |
| 23-Mar-2015 | Long-term survival in a child with severe encephalopathy, multiple respiratory chain deficiency and GFM1 mutations | Brito, Sara; Thompson, Kyle; Campistol Plana, Jaume; Colomer Oferil, Jaume; Hardy, Steven A.; Langping, He; Fernández Marmiesse, Ana; Palacios, Lourdes; Jou, Cristina; Jiménez Mallebrera, Cecilia; Armstrong i Morón, Judith; Montero Sánchez, Raquel; Artuch Iriberri, Rafael; Tischner, Christin; Wenz, Tina; McFarland, Robert; Taylor, Robert W. |
| 26-Feb-2013 | Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas | Sarrión Pérez-Caballero, Patricia; Sangorrin, A.; Urreizti, Roser; Delgado, A.; Artuch Iriberri, Rafael; Martorell, L.; Armstrong i Morón, Judith; Antón López, Jordi; Torner Rubies, Ferran; Vilaseca, M. A.; Nevado, J.; Lapunzina, Pablo; Asteggiano, Carla; Balcells Comas, Susana; Grinberg Vaisman, Daniel Raúl |