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Publicacions

  • O'Callaghan-Gordo M, Emperador S, López-Gallardo E, Jou-Munoz C, Buján N, Montero-Sanchez R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch-Iriberri R and Montoya J.

    New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset

    Neurogenetics . 13(3): 245-250. Nº de cites: 18

    [doi:10.1007/s10048-012-0322-0]

  • Casado-Rio M, O'Callaghan-Gordo M, Montero-Sanchez R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart-Lopez J, Aracil A, Pineda M and Artuch-Iriberri R.

    Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

    Cerebellum . 11(2): 557-563. Nº de cites: 23

    [doi:10.1007/s12311-011-0313-y]

  • 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]

  • 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: 126

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

  • De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Nº de cites: 33

    [doi:10.1007/s10545-010-9200-9]

  • 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: 46

    [doi:10.1002/mds.23129]

  • Quintana E, Sturiale L, Montero-Sanchez R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch-Iriberri R and Briones P.

    Secondary disorders of glycosylation in inborn errors of fructose metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(1): 273-278. Nº de cites: 21

    [doi:10.1007/s10545-009-1219-4]

  • Quintana E, Montero-Sanchez R, Casado-Rio M, Navarro-Sastre A, Vilaseca MA, Briones P and Artuch-Iriberri R.

    Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation

    JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES . 877(24): 2513-2518. Nº de cites: 21

    [doi:10.1016/j.jchromb.2009.06.031]

  • Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, Garcia-Cazorla A, Montoya J, Navas P and Artuch-Iriberri R.

    Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report

    CLINICAL BIOCHEMISTRY . 42(7-8): 742-745. Nº de cites: 23

    [doi:10.1016/j.clinbiochem.2008.10.027]

  • Quintana E, Navarro-Sastre A, Hernández-Pérez JM, García-Villoria J, Montero-Sanchez R, Artuch-Iriberri R, Ribes A and Briones P.

    Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)

    CLINICAL BIOCHEMISTRY . 42(4-5): 408-415. Nº de cites: 25

    [doi:10.1016/j.clinbiochem.2008.12.013]