Recerca

Metabolòmica i genètica bioquímica

Buscador de publicacions

Publicacions

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

    Biomedical point-of-care microanalyzer for potentiometric determination of ammonium ion in plasma and whole blood

    ANALYTICA CHIMICA ACTA . 1205: 339782-339782. Nº de cites: 3

    [doi:10.1016/j.aca.2022.339782]

  • Sánchez-Lijarcio O, Yubero-Siles D, Leal F, Couce ML, González Gutiérrez-Solana L, López-Laso E, Garcia-Cazorla A, Pias-Peleteiro LD, de Azua Brea B, Ibáñez-Micó S, Mateo-Martínez G, Troncoso-Schifferli M, Witting-Enriquez S, Ugarte M, Artuch-Iriberri R and Pérez-Dueñas B.

    The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1

    CLINICAL GENETICS . 102(1): 40-55. Nº de cites: 4

    [doi:10.1111/cge.14138]

  • 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 cites: 2

    [doi:10.1016/j.seizure.2022.03.010]

  • Paredes-Fuentes AJ, Oliva C, Montero-Sanchez R, Alcaide P, Ruijter GJG, García-Villoria J, Ruiz-Sala P and Artuch-Iriberri R.

    Technical Aspects of Coenzyme Q10 Analysis: Validation of a New HPLC-ED Method

    ANTIOXIDANTS . 11(3): . Nº de cites: 2

    [doi:10.3390/antiox11030528]

  • Hernández-Ainsa C, López-Gallardo E, García-Jiménez MC, Climent-Alcalá FJ, Rodríguez-Vigil C, García Fernández de Villalta M, Artuch-Iriberri R, Montoya J, Ruiz-Pesini E and Emperador S.

    Development and characterization of cell models harbouring mtDNA deletions for i n vitro study of Pearson syndrome

    DISEASE MODELS & MECHANISMS . 15(3): . Nº de cites: 3

    [doi:10.1242/dmm.049083]

  • Schlüter A, Rodríguez-Palmero A, Verdura E, Vélez-Santamaría V, Ruiz M, Fourcade S, Planas-Serra L, Martínez JJ, Guilera C, Girós M, Artuch-Iriberri R, Yoldi ME, O'Callaghan-Gordo M, Garcia-Cazorla A, Armstrong-Moron J, Marti I, Rezola EM, Redin C, Mandel JL, Conejo D, Sierra-Córcoles C, Beltran S, Gut M, Vázquez E, Del Toro M, Troncoso M, Pérez-Jurado LA, Gutiérrez-Solana LG, López de Munain A, Casasnovas C, Aguilera-Albesa S, Alfons Macaya, Pujol A and GWMD working group.

    Diagnosis of Genetic White Matter Disorders by Singleton Whole-Exome and Genome Sequencing Using Interactome-Driven Prioritization

    Neurology . 98(9): 912-923. Nº de cites: 11

    [doi:10.1212/WNL.0000000000013278]

  • Hernández-Ainsa C, Nascimento-Osorio A, Jou-Munoz C, Artuch-Iriberri R, Montoya C, Ruiz-Pesini E and Emperador S.

    Generation of an induced pluripotent stem cell line from a compound heterozygous patient in TK2 gene

    STEM CELL RESEARCH . 59: 102632-102632.

    [doi:10.1016/j.scr.2021.102632]

  • Julià-Palacios NA, Molina-Anguita, C, Sigatullina M, Cortés-Saladelafont E, Aparicio J, Cuadras-Palleja D, Horvath, G, Fons-Estupina C, Artuch-Iriberri R and Garcia-Cazorla A.

    Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 64(7): 915-923. Nº de cites: 3

    [doi:10.1111/dmcn.15140]

  • Casas-Alba D, Oliva C, Salgado MDC, Codina-Bergadà A, Agut-Quijano T, García-Alix A, Garcia-Puig M, Garcia-Cazorla A, Taglialatela M, Jou-Munoz C, Artuch-Iriberri R and Fons-Estupina C.

    Cerebrospinal Fluid Ion Analysis in Neonatal Seizures

    PEDIATRIC NEUROLOGY . 128: 16-19. Nº de cites: 1

    [doi:10.1016/j.pediatrneurol.2021.11.013]

  • Fernández-Ramos JA, De la Torre-Aguilar MJ, Quintáns B, Pérez-Navero JL, Beyer K and López-Laso E.

    Genetic landscape of Segawa disease in Spain. Long-term treatment outcomes.

    PARKINSONISM & RELATED DISORDERS . 94: 67-78. Nº de cites: 1

    [doi:10.1016/j.parkreldis.2021.11.014]