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Metabolòmica i genètica bioquímica

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Publicacions

  • 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): .

    [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: 1

    [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]

  • 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 cites: 4

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

  • Pajusalu S, Vals AM, Serrano M, Witters P, Cechova A, Honzik T, Edmondson AC, Ficicioglu C, Barone R, De Lonlay P, Bérat CM, Vuillaumier-Barrot S, Lam C, Patterson MC, Janssen MCH, Martins E, Quelhas D, Sykut-Cegielska J, Mousa J, Urreizti R, McWilliams P, Vernhes F, Plotkin H, Morava E and Ounap K.

    Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG

    HUMAN MUTATION . 2024: 1-21.

    [doi:10.1155/2024/8813121]

  • Neeman B, Sudhakar S, Biswas A, Rosenblum J, Sidpra J, D'Arco F, Löbel U, Gómez-Chiari M, Serrano M, Bolasell M, Reddy K, Ben-Sira L, Zakzouk R, Al-Hashem A, Mirsky DM, Patel R, Radhakrishnan R, Shekdar K, Whitehead MT and Mankad K.

    Sotos Syndrome: Deep Neuroimaging Phenotyping Reveals a High Prevalence of Malformations of Cortical Development

    AMERICAN JOURNAL OF NEURORADIOLOGY . 45(10): 1570-1577.

    [doi:10.3174/ajnr.A8364]

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication

    CLINICAL CHEMISTRY . 70(12): 1443-1451.

    [doi:10.1093/clinchem/hvae139]

  • Oliva-Mussara C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.

    Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes

    CLINICAL CHEMISTRY AND LABORATORY MEDICINE . 62(10): 1991-2000.

    [doi:10.1515/cclm-2023-1291]

  • Campistol-Plana J.

    Epilepsia o trastorno neurológico funcional. Estrategias para el diagnóstico.

    MEDICINA-BUENOS AIRES . 84 Suppl 3: 69-74.