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Publicacions

  • Mata A, Calvo E, Marsal-Beltran A, Medina-Pulido L, Lozano JJ, Ormazabal-Herrero A, Balaguer-Román A, Frutos MD, Artuch-Iriberri R, Cámara Y, Martí R, Rodrigues CMP, Castro RE, Hernández-Alvarez MI, Ramos-Molina B, Pastor-Anglada M, Fernández-Veledo S and Perez-Torras S.

    Equilibrative nucleoside transporter 1 deficiency protects against diet-induced MASLD and is stage-associated in human liver disease.

    METABOLISM-CLINICAL AND EXPERIMENTAL . 183: 156710-156710.

    [doi:10.1016/j.metabol.2026.156710]

  • Balaguer-Lluna L, Resa-Parés C, Brstilo L, Gómez-Caballero A, Baulenas-Farrés M, Mohr J, Hu Y, Aschero MR, Rodríguez A, Botteri G, Rodriguez E, Li-Chen L, Mañogil R, Marino F, Martinez N, Ruano A, García-Pelayo Á, Giron A, Mora J, Lavarino C, Sánchez-Navarro M, Teixidó M, Ormazabal-Herrero A, Artuch-Iriberri R, Unceta N, Schaiquevich P and Carcaboso AM.

    CNS distribution and preclinical activity of the PI3K/AKT inhibitors inavolisib and ipatasertib in pediatric-type diffuse high-grade gliomas.

    CANCER CHEMOTHERAPY AND PHARMACOLOGY . 96(1): .

    [doi:10.1007/s00280-026-04950-5]

  • Valls-Roca, L, Vilaseca-Capel, A, Cantó-Santos, J, Tobías, E, Andújar-Sánchez, F, Farré-Tarrats, L, Tort, F, Rentero, C, Enrich, C, López, V, Tejedor, JR, Esteve-Codina, A, De Arenas, CN, Moreno-Lozano, PJ, Milisenda, JC, O'Callaghan-Gordo M, García-Silva, T, Morales-Conejo, M, Fraga, MF, Artuch-Iriberri R, Martín, MA, Cuezva, JM, Matas, A, Garrabou, G and Guitart-Mampel, M.

    Patient-Derived Fibroblasts as a Clinically Relevant Model of Kearns-Sayre Syndrome

    ANNALS OF NEUROLOGY . : .

    [doi:10.1002/ana.78351]

  • Freiburghaus, K, Weykamp, C, Carling, R, Ruiz-Sala, P, Artuch-Iriberri R, Roux, C, Bierau, J, Schoeman, R, Ruijter, G and Mathis, D.

    Improving the performance of biochemical genetic testing through external quality assessment

    CLINICAL CHEMISTRY AND LABORATORY MEDICINE . : .

    [doi:10.1515/cclm-2026-0815]

  • Mayayo-Vallverdú, C, Vecino-Pérez, M, Prat, E, Cutanda-Tesouro, S, Ormazabal-Herrero A, Artuch-Iriberri R, Larriba, S, Asensi, MA, Palacín, M, Pallardó, FV, Garcia-Rovés, PM, Nunes, V and Estévez, R.

    L-Ergothioneine Attenuates Nephrolithiasis by Modulating Redox Signaling and Mitochondrial Function in Cystine and Calcium Oxalate Models

    ANTIOXIDANTS & REDOX SIGNALING . 44(16-18): 878-891. Nº de cites: 2

    [doi:10.1177/15230864261431276]

  • Rodriguez H, Arias AY, Elisabet Poyatos Cantón, de los Santos MM, Mínguez B, Meavilla-Olivas SM, García-Volpe C, Loverdos I, Molera C, Casado-Rio M, Ormazabal-Herrero A, Perera A and Artuch-Iriberri R.

    Proof of concept for an age- and inflammation-adjusted model for the establishment of pediatric serum copper reference intervals

    CLINICAL NUTRITION . 58: 106586-106586. Nº de cites: 2

    [doi:10.1016/j.clnu.2026.106586]

  • Carmona R, Roldán G, Fernández-Rueda JL, Navarro A, Peña-Chilet M, Dopazo J and López-López D.

    The Spanish Polygenic Score reference distribution: a resource for personalized medicine.

    EUROPEAN JOURNAL OF HUMAN GENETICS . 34(2): 270-277. Nº de cites: 2

    [doi:10.1038/s41431-025-01850-9]

  • Rodriguez H, Nou-Fontanet L, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Pias-Peleteiro LD, Gutierrez A, Perera A, Garcia-Cazorla A, Fons-Estupina C and Artuch-Iriberri R.

    Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy

    NEUROBIOLOGY OF DISEASE . 216: 107098-107098. Nº de cites: 1

    [doi:10.1016/j.nbd.2025.107098]

  • Rebollo-Calderón B, Calvo-López A, Ormazabal-Herrero A, Artuch-Iriberri R, Rosell-Ferrer X, Alonso-Chamarro J and Puyol M.

    Testing of a novel automated point-of-care analyzer for blood ammonium monitoring in a clinical setting

    ANALYTICAL AND BIOANALYTICAL CHEMISTRY . 417(15): 3477-3485.

    [doi:10.1007/s00216-025-05879-z]

  • Mancuso M, Lopriore P, Semmler L and Kornblum C.

    280th ENMC International Workshop: The ERN EURO-NMD mitochondrial diseases working group; diagnostic criteria and outcome measures in primary mitochondrial myopathies. Hoofddorp, the Netherlands, 22-24 November 2024.

    NEUROMUSCULAR DISORDERS . 50: 105340-105340. Nº de cites: 9

    [doi:10.1016/j.nmd.2025.105340]