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MªDel Mar O'callaghan Gordo

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Publications

  • 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. Number of citations: 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. Number of citations: 126

    [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. Number of citations: 47

    [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. Number of citations: 46

    [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. Number of citations: 93

    [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. Number of citations: 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. Number of citations: 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 . : .

  • Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.

    Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.

    CLINICAL CHEMISTRY . : .

    [doi:10.1093/clinchem/hvae139]

  • Rossi A, Romano R, Fecarotta S, Dell'Anno M, Pecorella V, Passeggio R, Zancan S, Parenti G, Santamaria F, Borgia F, Deodato F, Funghini S, Rupar CA, Prasad C, O'Callaghan-Gordo M, Mitchell JJ, Valsecchi MG, la Marca G, Galimberti S, Auricchio A and Brunetti-Pierri N.

    Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy.

    Med . : .

    [doi:10.1016/j.medj.2024.10.021]