Publications
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Marin Soria, Lose Luis, Lopez Galera, Rosa Ma, Argudo Ramirez, Ana, Gonzalez de Aledo, Jose Manuel, Pajares Garcia, Sonia, Sastre, Aleix Navarro, Hernandez Perez, Jose Ma, Ribes Rubio, Antonia, Gort Mas, Laura, Garcia Villoria, Judit, Gartner Tizano, Silvia, Rovira Amigo, Sandra, Asensio de la Cruz, Oscar, Garcia Gonzalez, Miguel, Cols M, Costa-Colomer J, Badenas Orquin, Celia, Fernandez, Diego Yeste, Campos Martorell, Ariadna, Clemente Leon, Maria, Mogas Vinals, Eduardo, Ferrer Costa, Roser, Giralt Arnaiz, Marina, Campistol Plana, Jaume, Garcia Cazorla, Angeles, Beneitez Pastor, David, Ortuno Cabrero, Ana, Blanco Alvarez, Adoracion, TazIon Vega, Barbara, Roue, Gael, Velasco Puyo, Pablo, Murciano Carrillo, Thais, Murillo Sanjuan, Laura, de Heredia Rubio, Cristina Diaz, Manu Pereira, Ma del Mar, Vives Corrons, Josep Lluis, Arranz Amo, Jose Antonio, Carnicer Caceres, Clara, del Toro Riera, Mireia, Ormazabal Herrero, Aida, Artuch-Iriberri R, Garcia-Volpe, Camila, Mercedes de los Santos, Mariela, Sierra March, Cristina, Ruiz Hernandez, Carlos Jose, Meavilla Olivas, Silvia Ma, Martin Nalda, Andrea, Riviere, Jacques G., Parra Martinez, Alba, Soler Palacin, Pere, Martinez Gallo, Monica, Colobran, Roger, Casals Senent, Teresa, Armelles Sebastia, Merce, Vidal Benede, Ma Jose, Checa, Mireira Jane, Fernandez Bordon, Rosa Ma, Asso Ministral, Laia, Prats Viedma, Blanca and Cabezas Pena, Carmen.
50 years of the Neonatal Screening Program in Catalonia
Revista espanola de salud publica . 94: .
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Marín Soria JL, López Galera RM, Argudo Ramírez A, González de Aledo JM, Pajares García S, Navarro Sastre A, Hernandez Pérez JM, Ribes Rubio A, Gort Mas L, García Villoria J, Gartner Tizano S, Rovira Amigo S, Asensio de la Cruz O, García González M, Cols M, Costa-Colomer J, Bádenas Orquin C, Yeste Fernández D, Campos Martorell A, Clemente León M, Mogas Viñals E, Ferrer Costa R, Giralt Arnaiz M, Campistol-Plana J, Garcia-Cazorla A, Beneitez Pastor D, Ortuño Cabrero A, Blanco Álvarez A, Tazón Vega B, Roué G, Velasco Puyo P, Murciano Carrillo T, Murillo Sanjuan L, Díaz de Heredia Rubio C, Mañú Pereira MDM, Vives Corrons JL, Arranz Amo JA, Carnicer Cáceres C, Del Toro Riera M, Ormazábal Herrero A, Artuch-Iriberri R, García-Volpe C, de los Santos MM, Sierra-March C, Ruiz-Hernández CJ, Meavilla-Olivas SM, Martín Nalda A, Rivière JG, Parra Martínez A, Soler Palacín P, Martínez Gallo M, Colobran R, Casals Senent T, Armelles Sebastia M, Vidal Benede MJ, Jané Checa M, Fernández Bordón RM, Asso Ministral L, Prats Viedma B and Cabezas Peña C.
50 años del Programa de Cribado Neonatal en Cataluña.
Revista espanola de salud publica . 94: 1-15.
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Alvarez-Guaita A, Blanco-Muñoz P, Meneses-Salas E, Wahba M, Pollock AH, Jose J, Casado-Rio M, Bosch M, Artuch-Iriberri R, Gaus K, Lu A, Pol A, Tebar F, Moss SE, Grewal T, Enrich C and Rentero C.
Annexin A6 Is Critical to Maintain Glucose Homeostasis and Survival During Liver Regeneration in Mice
HEPATOLOGY . 72(6): 2149-2164. Number of citations: 18
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Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
ACTA NEUROPATHOLOGICA . 140(6): 971-975. Number of citations: 22
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Balestrini S, Mikati MA, Garcia-Roves RA, Carboni M, Hunanyan AS, Kherallah B, McLean M, Prange L, De Grandis E, Gagliardi A, Pisciotta L, Stagnaro M, Veneselli E, Campistol-Plana J, Fons-Estupina C, Pias-Peleteiro L, Brashear A, Miller C, Samoes R, Brankovic V, Padiath QS, Potic A, Pilch J, Vezyroglou K, Bye AME, Davis AM, Ryan MM, Semsarian C, Hollingsworth G, Scheffer IE, Granata T, Nardocci N, Ragona F, Arzimanoglou A, Panagiotakaki E, Carrilho I, Zucca C, Novy J, Dziezyc K, Parowicz M, Mazurkiewicz-Beldzinska M, Weckhuysen S, Pons R, Groppa S, Sinden DS, Pitt GS, Tinker A, Ashworth M, Michalak Z, Thom M, Cross JH, Vavassori R, Kaski JP and Sisodiya SM.
Cardiac phenotype in ATP1A3-related syndromes A multicenter cohort study
Neurology . 95(21): 2866-2879. Number of citations: 21
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Ortigoza-Escobar JD.
A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.
FRONTIERS IN NEUROLOGY . 11: 582160-582160. Number of citations: 12
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Juárez-Flores DL, Ezquerra M, Gonzàlez-Casacuberta Ï, Ormazabal-Herrero A, Morén C, Tolosa E, Fucho R, Guitart-Mampel M, Casado-Rio M, Valldeoriola F, de la Torre-Lara J, Muñoz E, Tobías E, Compta Y, García-García FJ, García-Ruiz C, Fernandez-Checa JC, Martí MJ, Grau JM, Cardellach F, Artuch-Iriberri R, Fernández-Santiago R and Garrabou G.
Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus
ANTIOXIDANTS . 9(11): . Number of citations: 12
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Gámez A, Serrano M, Gallego D, Vilas A and Pérez-Dueñas B.
New and potential strategies for the treatment of PMM2-CDG.
BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS . 1864(11): 129686-129686. Number of citations: 22
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Molero M, Casas-Alba D, Orellana G, Ormazabal-Herrero A, Sierra-March C, Oliva C, Valls-Lafon A, Velasco J, Launes-Montana C, Cuadras-Palleja D, Pérez-Dueñas B, Jordán-García I, Cambra-Lasaosa FJ, Ortigoza-Escobar JD, Munoz-Almagro C, Garcia-Cazorla A, Armangue-Salvador T and Artuch-Iriberri R.
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases
SCIENTIFIC REPORTS . 10(1): 18291-18291. Number of citations: 32
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Murillo-Cuesta S, Artuch-Iriberri R, Asensio F, de la Villa P, Dierssen M, Enríquez JA, Fillat C, Fourcade S, Ibáñez B, Montoliu L, Oliver E, Pujol A, Salido E, Vallejo M and Varela-Nieto I.
The Value of Mouse Models of Rare Diseases: A Spanish Experience
Frontiers in Genetics . 11: 583932-583932. Number of citations: 16