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Metabolòmica i genètica bioquímica

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Publicacions

  • Mayayo-Vallverdú C, Prat E, Vecino-Pérez M, González L, Gràcia-Garcia S, San Miguel L, Lopera N, Arias A, Artuch-Iriberri R, López de Heredia M, Torrecilla C, Rousaud-Barón F, Angerri O, Errasti-Murugarren E and Nunes V.

    Exploring the Contribution of the Transporter AGT1/rBAT in Cystinuria Progression: Insights from Mouse Models and a Retrospective Cohort Study

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(24): . Nº de cites: 1

    [doi:10.3390/ijms242417140]

  • Muñoz-Pujol G, Ugarteburu O, Segur-Bailach E, Moliner S, Jurado S, Garrabou G, Guitart-Mampel M, García-Villoria J, Artuch-Iriberri R, Fons-Estupina C, Ribes A and Tort F.

    CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 46(6): 1029-1042.

    [doi:10.1002/jimd.12681]

  • Campistol-Plana J.

    Inborn errors of metabolism. Advances in diagnosis and therapeutic

    MEDICINA-BUENOS AIRES . 83: 3-8.

  • 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. Nº de cites: 10

    [doi:10.1002/jimd.12639]

  • Roldan-Molina M, Nolasco-Tovar GA, Armengol L, Frías M, Morell M, García-Aragonés M, Epifani F, Muchart-Lopez J, Ramírez-Almaraz ML, Martorell-Sampol L, Hernando-Davalillo C, Urreizti R and Serrano M.

    Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel PPP2R1A Variant and Its Unreported Phenotype

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 24(18): .

    [doi:10.3390/ijms241813699]

  • 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): . Nº de cites: 3

    [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): . Nº de cites: 3

    [doi:10.3390/nu15153475]

  • 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. Nº de cites: 7

    [doi:10.1016/j.redox.2023.102801]

  • 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. Nº de cites: 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. Nº de cites: 19

    [doi:10.1016/j.ajhg.2023.05.009]