Persones / Equip Humà

Veronica Delgadillo Chilavert

Buscador de publicacions

Publicacions

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    SCIENTIFIC REPORTS . 9: 793-793. Nº de cites: 28

    [doi:10.1038/s41598-018-37542-2]

  • Yubero-Siles D, Montero-Sanchez R, O'Callaghan-Gordo M, Pineda M, Meavilla-Olivas SM, Delgadillo V, Sierra-March C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S and Artuch-Iriberri R.

    Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III

    JIMD Reports . 25: 1-7. Nº de cites: 10

    [doi:10.1007/8904_2015_421]

  • Agut-Quijano T, Muchart-Lopez J, Delgadillo V and García-Alix A.

    Rombencefalosinapsis, una rara alteración del desarrollo del cerebelo de fácil diagnóstico.

    ANALES DE PEDIATRIA . 81(6): .

    [doi:10.1016/j.anpedi.2013.12.017]

  • Delgadillo V, O'Callaghan-Gordo M, Gort L, Coll MJ and Pineda M.

    Natural history of Sanfilippo syndrome in Spain

    ORPHANET JOURNAL OF RARE DISEASES . 8(1): 189-189. Nº de cites: 53

    [doi:10.1186/1750-1172-8-189]

  • Gonzalez-Quereda L, Delgadillo V, Juan-Mateu J, Verdura E, Rodriguez MJ, Baiget M, Pineda M and Gallano P.

    LMNA mutation in progeroid syndrome in association with strokes

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 54(6): 576-579. Nº de cites: 4

    [doi:10.1016/j.ejmg.2011.06.012]

  • Canals I, Elalaoui S, Pineda M, Delgadillo V, Szlago M, Jaouad I, Sefiani A, Chabás A, Coll M, Grinberg D and Vilageliu L.

    Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles

    CLINICAL GENETICS . 80(4): 367-374. Nº de cites: 19

    [doi:10.1111/j.1399-0004.2010.01525.x]

  • Delgadillo V, O'Callaghan-Gordo M, Artuch-Iriberri R, Montero-Sanchez R and Pineda M.

    Genistein supplementation in patients affected by Sanfilippo disease

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(5): 1039-1044. Nº de cites: 77

    [doi:10.1007/s10545-011-9342-4]