Publicacions
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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.
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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 . : .
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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: 1
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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: 1
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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
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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.
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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: 4
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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): . Nº de cites: 2
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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. Nº de cites: 6
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Oliva-Mussara C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes
CLINICAL CHEMISTRY AND LABORATORY MEDICINE . 62(10): 1991-2000. Nº de cites: 1
