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Rafael Artuch Iriberri

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Publications

  • 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. Number of citations: 1

    [doi:10.1177/15230864261431276]

  • Nou-Fontanet L, Muñoz-Puga N, Madrigal I, Arca-Diaz G, Alonso-Colmenero I, Artuch-Iriberri R and Fons-Estupina C.

    The emerging role of citrate as a diagnostic biomarker in SLC13A5-developmental and epileptic encephalopathy.

    EPILEPTIC DISORDERS . 28(2): 505-511.

    [doi:10.1002/epd2.70178]

  • 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. Number of citations: 1

    [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. Number of citations: 1

    [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. Number of citations: 1

    [doi:10.1016/j.nbd.2025.107098]

  • Godoy-Molina E, Serrano NL, Jiménez-González A, Villaronga M, Marqués Pérez-Bryan RM, Varela-Fernández R, Lotz-Esquivel S, Hevia Tuñón A, Trivedi PP, Horn N, Standing JF, Mangas-Sanjuan V, Capdevila M, Mateos A, Broun D, Lutsenko S, Medina-Rivera IF, Artuch-Iriberri R, Jou-Munoz C, Roldan-Molina M, Pedro Arango Sancho, Saez-Villafañe M, Ortiz-de-Urbina JJ, Pieras-López A, Duero M, Rosa Farré Riba, Pijuan-Marquilles J, Hoenicka J, Sacchettini JC, Petris MJ, Gohil VM and Palau F.

    Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease.

    JOURNAL OF CLINICAL INVESTIGATION . 135(19): . Number of citations: 5

    [doi:10.1172/JCI193107]

  • Julià-Palacios NA, Muñoz-Pujol, G, Maroofian, R, Bertoli-Avella, AM, Gómez-Chiari M, Muchart-Lopez J, Paredes-Fuentes, AJ, O'Callaghan-Gordo M, Machado-Casas, IS, Cristian, I, Morrison, J, Garcia-Cazorla A, Codina-Bergadà A, Miryounesi, M, Zonic, E, Bauer, P, Cheema, H, Anjum, MN, Al-Sannaa, N, Abd Elmaksoud, M, Ababneh, F, Alijanpour, S, Tonekaboni, SH, Fayazi, A, Urbaniak, M, Barba, U, Hoenicka J, Palau F, Houlden, H, Ortigoza-Escobar JD, Ribes, A, Santos-Ocaña, C, Tyler, M, Gaffney, P, Carroll, CJ, Tort, F, Wierenga, KJ, Webb, BD, Artuch-Iriberri R, Baide HS and Urreizti R.

    Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

    Brain Communications . 7(5): . Number of citations: 3

    [doi:10.1093/braincomms/fcaf348]

  • 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. Number of citations: 5

    [doi:10.1016/j.nmd.2025.105340]

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication

    CLINICAL CHEMISTRY . 70(12): 1443-1451. Number of citations: 6

    [doi:10.1093/clinchem/hvae139]