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Metabolòmica i genètica bioquímica

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Publicacions

  • van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Beblo S, Blau N, Bosch AM, Burlina A, Campistol-Plana J, Coskun T, Feillet F, Gizewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F and van Spronsen FJ.

    European guidelines on diagnosis and treatment of phenylketonuria: First revision

    MOLECULAR GENETICS AND METABOLISM . 145(2): 109125-109125.

    [doi:10.1016/j.ymgme.2025.109125]

  • 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]

  • Trujillano L, Valenzuela I, Costa-Roger M, Cuscó I, Fernandez-Alvarez P, Cueto-González A, Lasa-Aranzasti A, Masotto B, Abulí A, Codina-Solà M, Del Campo M, Ruiz Moreno JA, Pardo Domínguez C, Palma Milla C, Pérez de la Fuente R, Quesada-Espinosa JF, Núñez-Enamorado N, Gener B, Ballesta-Martínez MJ, Brea-Fernández AJ, Fernández-Prieto M, Trujillo-Quintero JP, Ruiz A, Santos-Simarro F, Rosello M, Orellana C, Martinez F, Martinez-Monseny T, Casas-Alba D, Serrano M, Palomares-Bralo M, Rikeros-Orozco E, Gómez-Cano MÁ, Tirado-Requero P, Pié Juste J, Ramos FJ, García-Arumí E and Tizzano E.

    Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome

    CLINICAL GENETICS . 107(6): 646-662.

    [doi:10.1111/cge.14701]

  • Urreizti R, Vissicchio J, Idries M, Cozar M, Rabionet-Janssen R, Donald T, Bhoj EJ, Nomakuchi TT, Shipley SC, Timms AE, Mirzaa GM, Serrano M and Sobering AK.

    Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . : .

    [doi:10.1002/ajmg.a.64095]

  • Martín-Hernández E, Bellusci M, Pérez-Mohand P, Correcher Medina P, Blasco-Alonso J, Morais-López A, de Las Heras J, Meavilla-Olivas SM, Dougherty-de Miguel L, Couce ML, Villarroya EC, García Jiménez MC, Moreno-Lozano PJ, Vives I, Gil-Campos M, Stanescu S, Ceberio-Hualde L, Camprodón M, Cortés-Saladelafont E, López-Urdiales R, Murray Hurtado M, Márquez Armenteros AM, Sierra Córcoles C, Peña-Quintana L, Ruiz-Pons M, Alcalde C, Castellanos-Pinedo F, Dios E, Barrio-Carreras D, Martín-Cazaña M, García-Peris M, Andrade JD, García-Volpe C, de los Santos MM, Garcia-Cazorla A, Del Toro M, Felipe-Rucián A, Comino Monroy MJ, Sánchez-Pintos P, Matas A, Gil Ortega D, Martín-Rivada Á, Bergua A, Belanger-Quintana A, Vitoria I, Yahyaoui R, Pérez B, Morales-Conejo M and Quijada-Fraile P.

    Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry.

    Nutrients . 17(7): .

    [doi:10.3390/nu17071173]

  • Laguna, Javier, Perez, Judit, Collado, Tatiana, Zaragoza, Carles, Alcala, Patricia, de Aledo-Castillo, Jose Manuel Gonzalez, Lopez-Galera, Rosa M., Argudo-Ramirez, Ana, Paredes-Fuentes, Abraham J., Arranz-Amo, Jose Antonio, Ormazabal-Herrero A, Carnicer-Caceres, Clara, Garcia-Villoria, Judit and Pajares, Sonia.

    A simple, sensitive and high-throughput assay using UPLC-MS/MS for the quantification of plasma methylmalonic acid to detect and monitor genetic and acquired methylmalonic acidurias

    MICROCHEMICAL JOURNAL . 208: .

    [doi:10.1016/j.microc.2024.112560]

  • Holubova V, Barone R, Grunewald S, Tesarová M, Hansíková H, Augustínová J, Sykut-Cegielska J, De Nictolis F, Diaz-Moreno U, Elangovan R, Epifani F, Gasperini S, Jansen M, Lefeber D, Maksym-Gasiorek D, Diego M, Ounap K, Pettinato F, Põder H, Rymen D, Vals MA, Serrano M, Witters P and Honzík T.

    Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations

    JOURNAL OF INHERITED METABOLIC DISEASE . 48(1): . Nº de cites: 1

    [doi:10.1002/jimd.12826]

  • Cárdenes, CL, Sanchez-Cañete, AM, Santamaría, SV, Galindo, CG, Sanz, NM, González, AT, Castro, EB, Tirado, AM, Garcia, MG, Rozas, ML, Riesgo, TR, Beltrán, MA, Martínez, JG, González, MS, Romero, RG, Hernández, D, Codoceo, MM, Fernández, CM, Gómez, CT, Rubio, ET, Pérez, PO, Eseverri, IL, García-Volpe C, Lobato, ES, Rivada, AM, Millan, ARC, Castillo, RDB, San Nicolás, SS, Hurtado, MM, Gaudiza, EC, Martínez, íMM and Jiménez, DG.

    Effects on growth, weight and body composition after CFTR modulators in children with cystic fibrosis

    PEDIATRIC PULMONOLOGY . 59(12): 3632-3640. Nº de cites: 2

    [doi:10.1002/ppul.27272]

  • Granjo, Pedro, Pascoal, Carlota, Gallego, Diana, Francisco, Rita, Jaeken, Jaak, Moors, Tristen, Edmondson, Andrew C, Kantautas, Kristin A, Serrano M, Videira, Paula A and Dos Reis Ferreira, Vanessa.

    Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community

    ORPHANET JOURNAL OF RARE DISEASES . 19(1): 407-407.

    [doi:10.1186/s13023-024-03389-2]

  • Serrano M.

    Rare diseases: unraveling the biological basis to find future therapies

    MEDICINA-BUENOS AIRES . 84: 9-14.