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Metabolòmica i genètica bioquímica

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Publicacions

  • 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.

  • 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. Nº de cites: 26

    [doi:10.1002/hep.31232]

  • 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. Nº de cites: 26

    [doi:10.1007/s00401-020-02223-w]

  • 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. Nº de cites: 29

    [doi:10.1212/WNL.0000000000010794]

  • Ortigoza-Escobar JD.

    A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

    FRONTIERS IN NEUROLOGY . 11: 582160-582160. Nº de cites: 14

    [doi:10.3389/fneur.2020.582160]

  • 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): . Nº de cites: 18

    [doi:10.3390/antiox9111063]

  • 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. Nº de cites: 32

    [doi:10.1016/j.bbagen.2020.129686]

  • Parisi C, Candela-Cantó SA, Serrano M, Català-Temprano A, Aparicio J and Hinojosa J.

    Life-threatening secondary hemophagocytic lymphohistiocytosis following vagal nerve stimulator infection in a child with CHD2 myoclonic encephalopathy: a case report

    CHILDS NERVOUS SYSTEM . 36(11): 2851-2856. Nº de cites: 4

    [doi:10.1007/s00381-020-04558-x]

  • 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. Nº de cites: 37

    [doi:10.1038/s41598-020-75500-z]

  • 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. Nº de cites: 18

    [doi:10.3389/fgene.2020.583932]