Research

Metabolomics and biochemical genetics

Search publications

Publications

  • Mariño Z, Molera C, Badenas C, Quintero-Bernabeu J, Torra M, Forns X and Artuch-Iriberri R.

    Benefits of using exchangeable copper and the ratio of exchangeable copper in a real-world cohort of patients with Wilson disease

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(5): 982-991. Number of citations: 1

    [doi:10.1002/jimd.12639]

  • Cantó-Santos J, Valls-Roca L, Tobías E, Oliva-Mussara C, García-García FJ, Guitart-Mampel M, Andújar-Sánchez F, Esteve-Codina A, Martín-Mur B, Padrosa J, Aránega R, Moreno-Lozano PJ, Milisenda JC, Artuch-Iriberri R, Grau-Junyent JM and Garrabou G.

    Integrated Multi-Omics Analysis for Inferring Molecular Players in Inclusion Body Myositis

    ANTIOXIDANTS . 12(8): .

    [doi:10.3390/antiox12081639]

  • Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, Garcia-Cazorla A, Ormazabal-Herrero A and Urpi-Sarda M.

    Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods

    Nutrients . 15(15): . Number of citations: 1

    [doi:10.3390/nu15153475]

  • Oliva-Mussara C, Arias A, Ruiz M, Pujol A, Garrabou G, Canto-Santos J, Urreizti R, Castilla-Vallmanya L, Rodriguez H, Jou-Munoz C, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.

    Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number

    JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES . 1226: 123787-123787. Number of citations: 2

    [doi:10.1016/j.jchromb.2023.123787]

  • Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A and Durr A.

    Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias

    AMERICAN JOURNAL OF HUMAN GENETICS . 110(7): 1098-1109. Number of citations: 7

    [doi:10.1016/j.ajhg.2023.05.009]

  • Mayayo-Vallverdú C, López de Heredia M, Prat E, González L, Espino Guarch M, Vilches C, Muñoz L, Asensi MA, Serra C, Llebaria A, Casado-Rio M, Artuch-Iriberri R, Garrabou G, Garcia-Roves PM, Pallardó FV and Nunes V.

    The antioxidant L-Ergothioneine prevents cystine lithiasis in the Slc7a9-/- mouse model of cystinuria

    REDOX BIOLOGY . 64: 102801-102801. Number of citations: 1

    [doi:10.1016/j.redox.2023.102801]

  • Vega-Hanna L, Sanz-Cuesta M, Casas-Alba D, Bolasell M, Martorell-Sampol L, Pias-Peleteiro LD, Lucia FA, Martinez-Monseny T and Serrano M.

    Beyond the known phenotype of sotos syndrome: a 31-individuals cohort study

    Frontiers in pediatrics . 11: 1184529-1184529. Number of citations: 1

    [doi:10.3389/fped.2023.1184529]

  • De Giorgi A, Nardecchia F, Manti F, Campistol-Plana J and Leuzzi V.

    Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review

    MOLECULAR GENETICS AND METABOLISM . 139(2): 107588-107588.

    [doi:10.1016/j.ymgme.2023.107588]

  • Paredes-Fuentes AJ, Oliva-Mussara C, Urreizti R, Yubero-Siles D and Artuch-Iriberri R.

    Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

    CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES . 60(4): 270-289. Number of citations: 2

    [doi:10.1080/10408363.2023.2166013]

  • Muñoz-Pujol G, Ortigoza-Escobar JD, Paredes-Fuentes AJ, Jou-Munoz C, Ugarteburu O, Gort L, Yubero-Siles D, Garcia-Cazorla A, O'Callaghan-Gordo M, Campistol-Plana J, Muchart-Lopez J, Yépez VA, Gusic M, Gagneur J, Prokisch H, Artuch-Iriberri R, Ribes A, Urreizti R and Tort F.

    Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

    BRAIN PATHOLOGY . 33(3): . Number of citations: 3

    [doi:10.1111/bpa.13134]