Investigación

Metabolómica y genética bioquímica

Buscador de publicaciones

Publicaciones

  • 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]

  • 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): .

    [doi:10.1093/braincomms/fcaf348]

  • 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 citas: 4

    [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 citas: 7

    [doi:10.1002/ppul.27272]

  • Campistol-Plana J.

    Epilepsy or functional neurological disorders. Strategies for diagnosis

    MEDICINA-BUENOS AIRES . 84: 69-74.

  • 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. Nº de citas: 2

    [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. Nº de citas: 1

  • Muntau, AC, Longo, N, Ezgu, F, Schwartz, IVD, Lah, M, Bratkovic, D, Margvelashvili, L, Kiykim, E, Zori, R, Campistol-Plana J, Bélanger-Quintana, A, Lund, A, Guilder, L, Chakrapani, A, Mungan, HN, Guimas, A, Guerra, IDC, MacDonald, A, Ingalls, K and Smith, N.

    Effects of oral sepiapterin on blood Phe concentration in a broad range of patients with phenylketonuria (APHENITY): results of an international, phase 3, randomised, double-blind, placebo-controlled trial

    Lancet . 404(10460): 1333-1345. Nº de citas: 13

    [doi:10.1016/S0140-6736(24)01556-3]