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Publicaciones

  • Ribeiro J, Tristan-Noguero A, Martinez-Calvo FF, Ibanez-Mico S, Peña-Segura JL, Ramos-Fernandez JM, O'Callaghan-Gordo M, Campistol-Plana J, Serrano M, Xenia Alonso, Illescas KS, Ramírez-Camacho A, Sans-Capdevila O, Garcia-Cazorla A and Alonso-Colmenero I.

    Developmental Outcome of Electroencephalographic Findings in SYNGAP1 Encephalopathy

    Frontiers in Cell and Developmental Biology . 12: .

    [doi:10.3389/fcell.2024.1321282]

  • Campistol-Plana J.

    Inborn errors of metabolism. Advances in diagnosis and therapeutic

    MEDICINA-BUENOS AIRES . 83: 3-8.

  • Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, Garcia-Cazorla A, Ormazabal-Herrero A and Urpi-Sarda M.

    Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods

    Nutrients . 15(15): .

    [doi:10.3390/nu15153475]

  • De Giorgi A, Nardecchia F, Manti F, Campistol-Plana J and Leuzzi V.

    Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review

    MOLECULAR GENETICS AND METABOLISM . 139(2): 107588-107588.

    [doi:10.1016/j.ymgme.2023.107588]

  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.

    Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

    BRAIN PATHOLOGY . 33(3): . Nº de citas: 2

    [doi:10.1111/bpa.13134]

  • Chávez López EK, Aparicio J, Carlos Valera Dávila, Campistol-Plana J, Ramírez-Camacho A, Fons-Estupina C and Arzimanoglou A.

    Pre-surgical evaluation challenges and long-term outcome in children operated on for Low Grade Epilepsy Associated brain Tumors

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 41: 55-62.

    [doi:10.1016/j.ejpn.2022.10.001]

  • Aparicio J, Niñerola-Baizán A, Perissinotti A, Rubí S, Muchart-Lopez J, Candela-Cantó SA, Campistol-Plana J and Setoain X.

    Presurgical evaluation of drug-resistant paediatric focal epilepsy with PISCOM compared to SISCOM and FDG-PET*

    SEIZURE-EUROPEAN JOURNAL OF EPILEPSY . 97: 43-49. Nº de citas: 2

    [doi:10.1016/j.seizure.2022.03.010]

  • Evers RAF, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Bosch AM, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SCJ, Kearney S, Langeveld M, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz FK, MacDonald A and van Spronsen FJ.

    Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.

    MOLECULAR GENETICS AND METABOLISM . 132(4): 215-219. Nº de citas: 1

    [doi:10.1016/j.ymgme.2021.01.013]

  • 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 years of the Neonatal Screening Program in Catalonia.]

    Revista espanola de salud publica . 94: 1-15.

  • 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 citas: 17

    [doi:10.1212/WNL.0000000000010794]