Persones / Equip Humà

Délia Yubero Siles

Buscador de publicacions

Publicacions

  • 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]

  • Cassis L, Cortés-Saladelafont E, Molero M, Yubero-Siles D, González MJ, Ormazabal-Herrero A, Fons-Estupina C, Jou-Munoz C, Sierra-March C, Castejón Ponce E, Ramos F, Armstrong-Moron J, O'Callaghan-Gordo M, Casado-Rio M, Montero-Sanchez R, Meavilla-Olivas SM, Artuch-Iriberri R, Baric I, Bartoloni F, Bellettato CM, Bonifazi F, Ceci A, Cvitanovic-Šojat L, Dali CI, D'Avanzo F, Fumic K, Giannuzzi V, Lampe C, Scarpa M and Garcia-Cazorla A.

    Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

    ORPHANET JOURNAL OF RARE DISEASES . 10: 164-164. Nº de cites: 18

    [doi:10.1186/s13023-015-0376-9]

  • Yubero-Siles D, Montero-Sanchez R, Ramos M, Neergheen V, Navas P, Artuch-Iriberri R and Hargreaves I.

    Determination of urinary coenzyme Q10 by HPLC with electrochemical detection: Reference values for a paediatric population

    Biofactors . 41(6): 424-430. Nº de cites: 17

    [doi:10.1002/biof.1242]

  • Yubero-Siles D, Montero-Sanchez R, Armstrong-Moron J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P and Artuch-Iriberri R.

    Molecular diagnosis of coenzyme Q10 deficiency

    EXPERT REVIEW OF MOLECULAR DIAGNOSTICS . 15(8): 1049-1059. Nº de cites: 14

    [doi:10.1586/14737159.2015.1062727]

  • O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.

    Mutation loads in different tissues from six pathogenic mtDNA point mutations

    Mitochondrion . 22: 17-22. Nº de cites: 13

    [doi:10.1016/j.mito.2015.03.001]

  • Yubero-Siles D, O'Callaghan-Gordo M, Montero-Sanchez R, Ormazabal-Herrero A, Armstrong-Moron J, Espinos C, Rodríguez-García MA, Jou-Munoz C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P and Artuch-Iriberri R.

    Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency

    BMC PEDIATRICS . 14: 284-284. Nº de cites: 15

    [doi:10.1186/s12887-014-0284-5]

  • Yubero-Siles D, Montero-Sanchez R, Artuch-Iriberri R, Land JM, Heales SJ and Hargreaves IP.

    Biochemical diagnosis of coenzyme q10 deficiency.

    Molecular syndromology . 5(3-4): 147-55. Nº de cites: 33

    [doi:10.1159/000362390]

  • 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 . : .

    [doi:10.1002/jimd.12776]

  • Martinez-Molina M, Carmona-Rocha E, Gil-Lianes J, Yubero-Siles D, Casas-Alba D, Baselga E and Ivars M.

    Trichoscopic findings in neonatal alopecia in oro-facial-digital syndrome type 1.

    PEDIATRIC DERMATOLOGY . : .

    [doi:10.1111/pde.15686]