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Publicacions

  • Beatriz Mínguez Rodríguez, de los Santos MM, García-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva-Mussara C, Arias A, Rodriguez H, Yubero-Siles D, Tondo M, Santos-Ocaña C, Meavilla-Olivas SM and Artuch-Iriberri R.

    Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

    ANTIOXIDANTS . 13(8): .

    [doi:10.3390/antiox13080966]

  • Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart-Lopez J, Cokolic Petrovic D, Espinoza I, Ortigoza-Escobar JD and Martemyanov KA.

    Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function

    ANNALS OF NEUROLOGY . 94(5): 987-1004. Nº de cites: 8

    [doi:10.1002/ana.26758]

  • Diana Garcia Tirado, Molera C, Álvarez Beltrán M, Mercadal-Hally M, Vaquero Raya EC, Meavilla-Olivas SM, Johanna Martínez Osorio, Barber-Martínez de la Torre I, Cárdenas Vásquez A, Segarra Canton O and Martín-de-Carpi J.

    A Better Understanding of Pediatric Autoimmune Pancreatitis: Over 13 Years of Experience

    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION . 76(5): 640-645.

    [doi:10.1097/MPG.0000000000003732]

  • Martín-Hernández E, Quijada-Fraile P, Correcher P, Meavilla-Olivas SM, Sánchez-Pintos P, de Las Heras Montero J, Blasco-Alonso J, Dougherty L, Marquez A, Peña-Quintana L, Cañedo E, García-Jimenez MC, Moreno Lozano PJ, Murray Hurtado M, Camprodon Gómez M, Barrio-Carreras D, de los Santos MM, Del Toro M, Couce ML, Vitoria Miñana I, Morales Conejo M and Bellusci M.

    Switching to Glycerol Phenylbutyrate in 48 Patients with Urea Cycle Disorders: Clinical Experience in Spain.

    Journal of Clinical Medicine . 11(17): 5045. Nº de cites: 3

    [doi:10.3390/jcm11175045]

  • Sánchez-Pintos P, Meavilla-Olivas SM, López-Ramos MG, Garcia-Cazorla A and Couce ML.

    Intravenous branched-chain amino-acid-free solution for the treatment of metabolic decompensation episodes in Spanish pediatric patients with maple syrup urine disease

    Frontiers in pediatrics . 10: 969741-969741. Nº de cites: 1

    [doi:10.3389/fped.2022.969741]

  • Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Ramadža DP, Baumgartner MR, Cano A, Jiménez MCG, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla-Olivas SM, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V and Kölker S.

    Postauthorization safety study of betaine anhydrous

    JOURNAL OF INHERITED METABOLIC DISEASE . 45(4): 719-733. Nº de cites: 4

    [doi:10.1002/jimd.12499]

  • 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.

  • Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.

    Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

    SCIENTIFIC REPORTS . 9: 9128-9128. Nº de cites: 4

    [doi:10.1038/s41598-019-45674-2]

  • Huemer M, Diodato D, Martinelli D, Olivieri G, Blom H, Gleich F, Kölker S, Kožich V, Morris AA, Seifert B, Froese DS, Baumgartner MR, Dionisi-Vici C, EHOD consortium, Martin CA, Baethmann M, Ballhausen D, Blasco-Alonso J, Boy N, Bueno M, Burgos Peláez R, Cerone R, Chabrol B, Chapman KA, Couce ML, Crushell E, Dalmau Serra J, Diogo L, Ficicioglu C, García Jimenez MC, García Silva MT, Gaspar AM, Gautschi M, González-Lamuño D, Gouveia S, Grünewald S, Hendriksz C, Janssen MCH, Jesina P, Koch J, Konstantopoulou V, Lavigne C, Lund AM, Martins EG, Meavilla-Olivas SM, Mention K, Mochel F, Mundy H, Murphy E, Paquay S, Pedrón-Giner C, Ruiz Gómez MA, Santra S, Schiff M, Schwartz IV, Scholl-Bürgi S, Servais A, Skouma A, Tran C, Vives Piñera I, Walter J and Weisfeld-Adams J.

    Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(2): 333-352. Nº de cites: 48

    [doi:10.1002/jimd.12041]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    SCIENTIFIC REPORTS . 9: 793-793. Nº de cites: 28

    [doi:10.1038/s41598-018-37542-2]