Investigación

Metabolómica y genética bioquímica

Buscador de publicaciones

Publicaciones

  • Urreizti R, Lopez-Martin E, Martinez-Monseny T, Pujadas M, Castilla-Vallmanya L, Pérez-Jurado LA, Serrano M, Natera-de Benito D, Martínez-Delgado B, Posada-de-la-Paz M, Alonso J, Marin-Reina P, O'Callaghan-Gordo M, Grinberg-Vaisman DR, Bermejo-Sánchez E and Balcells S.

    Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 44-44. Nº de citas: 24

    [doi:10.1186/s13023-020-1317-9]

  • de la Fuente J, Amate J, González-Torres MC, Artuch-Iriberri R, García-Torrecillas JM and Fadda S.

    Effects of Levels of Self-Regulation and Regulatory Teaching on Strategies for Coping With Academic Stress in Undergraduate Students

    FRONTIERS IN PSYCHOLOGY . 11: 22-22. Nº de citas: 35

    [doi:10.3389/fpsyg.2020.00022]

  • Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero-Siles D, Fernández-Marmiesse A, O'Callaghan-Gordo M, Ortigoza-Escobar JD, Iriondo-Sanz M, Ruiz-Pesini E, Garcia-Cazorla A, Gil-Campos M, Artuch-Iriberri R, Montoya C and Bayona-Bafaluy MP.

    Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

    Frontiers in Genetics . 10: 1300-1300. Nº de citas: 11

    [doi:10.3389/fgene.2019.01300]

  • Martinez-Monseny T, Casas-Alba D, Arjona-Fernandez C, Bolasell M, Casano-Sancho P, Muchart-Lopez J, Ramos F, Martorell-Sampol L, Palau F, García-Alix A and Serrano M.

    Okur-Chung neurodevelopmental syndrome in a patient from Spain

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 20-24. Nº de citas: 19

    [doi:10.1002/ajmg.a.61405]

  • Leon E, Diaz J, Castilla-Vallmanya L, Grinberg-Vaisman DR, Balcells S and Urreizti R.

    Extending the phenotypic spectrum of Bohring-Opitz syndrome: Mild case confirmed by functional studies.

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 182(1): 201-204. Nº de citas: 5

    [doi:10.1002/ajmg.a.61397]

  • Gaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero-Siles D, Garcia-Cazorla A, Artuch-Iriberri R, Montoya C and Bayona-Bafaluy MP.

    Infectious stress triggers a POLG-related mitochondrial disease

    Neurogenetics . 21(1): 19-27. Nº de citas: 9

    [doi:10.1007/s10048-019-00593-2]

  • Pillai NR, Yubero-Siles D, Shayota BJ, De Oyarzabal-Sanz AL, Ghosh R, Sun Q, Azamian MS, Arjona-Fernandez C, Brandi-Tarrau N, Palau F, Lalani SR, Artuch-Iriberri R, Garcia-Cazorla A and Scott DA.

    Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 179(12): 2459-2468. Nº de citas: 9

    [doi:10.1002/ajmg.a.61357]

  • Batllori-Tragant M, Casado-Rio M, Sierra-March C, Salgado MDC, Marti-Sanchez L, Maynou-Fernández J, Fernandez-Isern G, Garcia-Cazorla A, Ormazabal-Herrero A, Molero M and Artuch-Iriberri R.

    Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

    Fluids and Barriers of the CNS . 16(1): 34-34. Nº de citas: 12

    [doi:10.1186/s12987-019-0154-5]

  • Bodoy S, Sotillo F, Espino-Guarch M, Sperandeo MP, Ormazabal-Herrero A, Zorzano A, Sebastio G, Artuch-Iriberri R and Palacín M.

    Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(21): . Nº de citas: 19

    [doi:10.3390/ijms20215294]

  • Pascreau T, de la Morena-Barrio ME, Lasne D, Serrano M, Bianchini E, Kossorotoff M, Boddaert N, Bruneel A, Seta N, Vicente V, de Lonlay P, Corral J and Borgel D.

    Elevated thrombin generation in patients with congenital disorder of glycosylation and combined coagulation factor deficiencies

    JOURNAL OF THROMBOSIS AND HAEMOSTASIS . 17(11): 1798-1807. Nº de citas: 20

    [doi:10.1111/jth.14559]