Persones / Equip Humà

MªDel Mar O'callaghan Gordo

Buscador de publicacions

Publicacions

  • 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: 79

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

  • Velasco-Sánchez D, Aracil A, Montero-Sanchez R, Mas A, Jiménez L, O'Callaghan-Gordo M, Tondo M, Capdevila A, Blanch J, Artuch-Iriberri R and Pineda M.

    Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia

    CEREBELLUM . 10(1): 1-8. Nº de cites: 134

    [doi:10.1007/s12311-010-0212-7]

  • Serrano M, García-Silva MT, Martin-Hernandez E, O'Callaghan-Gordo M, Quijada P, Martinez-Aragón A, Ormazabal-Herrero A, Blázquez A, Martín-Mateos MA, Briones P, López-Gallardo E, Ruiz-Pesini E, Montoya J, Artuch-Iriberri R and Pineda M.

    Kearns-Sayre syndrome: Cerebral folate deficiency, MRI findings and new cerebrospinal fluid biochemical features

    MITOCHONDRION . 10(5): 429-432. Nº de cites: 48

    [doi:10.1016/j.mito.2010.04.001]

  • Pineda M, Montero-Sanchez R, Aracil A, O'Callaghan-Gordo M, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P and Artuch-Iriberri R.

    Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up

    MOVEMENT DISORDERS . 25(9): 1262-1268. Nº de cites: 48

    [doi:10.1002/mds.23129]

  • Pineda M, Pérez-Poyato M S, O'Callaghan-Gordo M, Vilaseca MA, Pocovi M, Domingo R, Portal LR, Pérez AV, Temudo T, Gaspar A, Peñas JJ, Roldán S, Fumero LM, de la Barca OB, Silva MT, Macías-Vidal J and Coll MJ.

    Clinical experience with miglustat therapy in pediatric patients with Niemann Pick disease type C: A case series

    MOLECULAR GENETICS AND METABOLISM . 99(4): 358-366. Nº de cites: 97

    [doi:10.1016/j.ymgme.2009.11.007]

  • Roche A, Mora J, Perez Mdel M, Gean Molins E, Pérez-Dueñas B, O'Callaghan-Gordo M, Catala J, de Torres C, Cruz-Martínez O, Prat-Bartomeu J and Parareda A.

    Axenfeld-Rieger Ocular Anomaly and Retinoblastoma Caused by Constitutional Chromosome 13q Deletion

    PEDIATRIC BLOOD & CANCER . 54(3): 480-482. Nº de cites: 3

    [doi:10.1002/pbc.22354]

  • Pineda M, R-Palmero A, Baquero M, O'Callaghan-Gordo M, Aracil A, van der Knaap M and Scheper GC.

    Vanishing white matter disease associated with progressive macrocephaly

    NEUROPEDIATRICS . 39(1): 29-32. Nº de cites: 5

    [doi:10.1055/s-2008-1076738]

  • Cortés-Saladelafont E, Molero M, Duarte S, Casado-Rio M, Sierra-March C, O'Callaghan-Gordo M, Sanmarti FX, Fons-Estupina C, González V, Pérez-Dueñas B, Poo P, Ramos F, García-Alix A, Armstrong-Moron J, Artuch-Iriberri R and Garcia-Cazorla A.

    Supplementation with pyridoxal phosphate may be useful in diverse neuropediatric disorders.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . : .

  • Aranda S, Ribeiro J, Tristán-Noguero A, Moreno-Ruiz N, Arenas C, Calvo FFM, Ibañez-Mico S, Segura JLP, Ramos-Fernández JM, Del Carmen Moyano Chicano M, León RC, Soto-Insuga V, González-Alguacil E, Carlos Valera Dávila, Fernández-Jaén A, Plans L, Camacho A, Visa-Reñé N, Del Pilar Martin-Tamayo Blázquez M, Paredes-Carmona F, Marti-Carrera I, Ginot-Julià G, Hernández-Fabián A, Davi MT, Sanchez MC, Herraiz LC, Pita PF, Gonzalez TB, O'Callaghan-Gordo M, Iglesias Santa Polonia FF, Cazorla MR, Lucas MTF, González-Meneses A, Sala-Coromina J, Macaya A, Lasa-Aranzasti A, Anna M, Cueto-González, Párraga FV, Campistol-Plana J, Serrano M, Xenia Alonso, Palafoll MIV, Monteagudo E, Alonso-Colmenero I, Sans-Capdevila O, Casals F, Cormand B, Garcia-Cazorla A, Bayés À and Mitjans M.

    Genotype-phenotype correlations and putative modifier genes in SYNGAP1 encephalopathy.

    NEUROBIOLOGY OF DISEASE . : 107357-107357.

    [doi:10.1016/j.nbd.2026.107357]