Investigación

Metabolómica y genética bioquímica

Buscador de publicaciones

Publicaciones

  • 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: 7

    [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: 8813121-8813121.

    [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. Nº de citas: 1

    [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. Nº de citas: 1

    [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.

  • 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]

  • Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.

    New variants expand the neurological phenotype of COQ7 deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . 47(5): 1047-1068. Nº de citas: 1

    [doi:10.1002/jimd.12776]

  • 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): . Nº de citas: 1

    [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]