Investigación

Metabolómica y genética bioquímica

Buscador de publicaciones

Publicaciones

  • 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]

  • 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]

  • 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.

  • Serrano M.

    Enfermedades raras: desentrañando las bases biológicas para encontrar futuras terapias.

    MEDICINA-BUENOS AIRES . 84 Suppl 3: 9-14.

  • Mayayo-Vallverdú C, Gaitán-Peñas H, Armand-Ugon M, Muhaisen A, Prat E, Castellanos A, Elorza-Vidal X, de Heredia ML, Alonso-Gardón M, Pérez-Rius C, Vecino-Pérez M, Mallen A, Errasti-Murugarren E, Hueso M, Artuch-Iriberri R, Nunes V and Estévez R.

    Regulation of ClC-K/barttin by endocytosis influences distal convoluted tubule hyperplasia

    JOURNAL OF PHYSIOLOGY-LONDON . 602(17): 4291-4307. Nº de citas: 1

    [doi:10.1113/JP286729]

  • Beatriz Mínguez Rodríguez, de los Santos MM, García-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva-Mussara C, Arias A, Rodriguez H, Yubero-Siles D, Tondo M, Santos-Ocaña C, Meavilla-Olivas SM and Artuch-Iriberri R.

    Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

    ANTIOXIDANTS . 13(8): .

    [doi:10.3390/antiox13080966]

  • Barroso, Sergio, Guitart-Mampel, Mariona, Garcia-Garcia, Francesc Josep, Canto-Santos, Judith, Valls-Roca, Laura, Andujar-Sanchez, Felix, Vilaseca-Capel, Adria, Tobias, Ester, Arias-Dimas, Angela, Quesada-Lopez, Tania, Artuch-Iriberri R, Villarroya-Gombau F, Giralt, Marta, Martinez, Esteban, Lozano, Ester and Garrabou, Gloria.

    Metabolic, Mitochondrial, and Inflammatory Effects of Efavirenz, Emtricitabine, and Tenofovir Disoproxil Fumarate in Asymptomatic Antiretroviral-Naïve People with HIV

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 25(15): .

    [doi:10.3390/ijms25158418]

  • Serrano M, MARIA ELIAS ABADIAS, Llorens M, Bolasell M, Vall-Roqué H and Villalta L.

    Early treatment for children with mental health problems and genetic conditions through a parenting intervention (The GAP): study protocol for a pragmatic randomized controlled trial.

    Trials . 25(1): 496-496.

    [doi:10.1186/s13063-024-08278-4]