Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • 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]

  • Roche-Martinez A, Pérez-Dueñas B, Camacho Díaz JA, Torres RJ, Puig JG, Garcia-Cazorla A and Artuch-Iriberri R.

    Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome

    AMERICAN JOURNAL OF KIDNEY DISEASES . 53(4): 677-680. Nº de cites: 32

    [doi:10.1053/j.ajkd.2008.09.011]

  • López LC, Akman HO, Garcia-Cazorla A, Dorado B, Martí R, Nishino I, Tadesse S, Pizzorno G, Shungu D, Bonilla E, Tanji K and Hirano M.

    Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice

    HUMAN MOLECULAR GENETICS . 18(4): 714-722. Nº de cites: 118

    [doi:10.1093/hmg/ddn401]

  • Cullinane AR, Straatman-Iwanowska A, Seo JK, Ko JS, Song KS, Gizewska M, Gruszfeld D, Gliwicz D, Tuysuz B, Erdemir G, Sougrat R, Wakabayashi Y, Hinds R, Barnicoat A, Mandel H, Chitayat D, Fischler B, Garcia-Cazorla A, Knisely AS, Kelly DA, Maher ER and Gissen P.

    Molecular Investigations to Improve Diagnostic Accuracy in Patients With ARC Syndrome

    HUMAN MUTATION . 30(2): 330-337. Nº de cites: 30

    [doi:10.1002/humu.20900]

  • Marín-Valencia I, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.

    Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines

    CLINICAL BIOCHEMISTRY . 41(16-17): 1306-1315. Nº de cites: 38

    [doi:10.1016/j.clinbiochem.2008.08.077]

  • Akman HO, Dorado B, López LC, Garcia-Cazorla A, Vilà MR, Tanabe LM, Dauer WT, Bonilla E, Tanji K and Hirano M.

    Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance

    HUMAN MOLECULAR GENETICS . 17(16): 2433-2440. Nº de cites: 92

    [doi:10.1093/hmg/ddn143]

  • Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J, Torres RJ and Garcia-Cazorla A.

    Levodopa therapy in a Lesch-Nyhan disease patient:: Pathological, biochemical, neuroimaging, and therapeutic remarks

    MOVEMENT DISORDERS . 23(9): 1297-1300. Nº de cites: 15

    [doi:10.1002/mds.21786]

  • Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Hernández AR, Cordero MD, Trevisson E, Salviati L, Pineda M, Garcia-Cazorla A, Navas P and Artuch-Iriberri R.

    Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

    CLINICAL BIOCHEMISTRY . 41(9): 697-700. Nº de cites: 59

    [doi:10.1016/j.clinbiochem.2008.03.007]

  • Garcia-Cazorla A, Duarte S, Serrano M, Nascimento-Osorio A, Ormazabal-Herrero A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M and Artuch-Iriberri R.

    Mitochondrial diseases mimicking neuro transmitter defects

    Mitochondrion . 8(3): 273-278. Nº de cites: 39

    [doi:10.1016/j.mito.2008.05.001]

  • Ormazabal-Herrero A, Oppenheim M, Serrano M, Garcia-Cazorla A, Campistol-Plana J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S and Artuch-Iriberri R.

    Pyridoxal 5'-phosphate values in cerebrospinal fluid:: Reference values and diagnosis of PNPO deficiency in paediatric patients

    MOLECULAR GENETICS AND METABOLISM . 94(2): 173-177. Nº de cites: 46

    [doi:10.1016/j.ymgme.2008.01.004]