People / Staff

MªAngels García Cazorla

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Publications

  • Nascimento-Osorio A, Ortez-Gonzalez CI, Jou-Munoz C, O'Callaghan-Gordo M, Ramos F and Garcia-Cazorla A.

    Neuromuscular Manifestations in Mitochondria! Diseases in Children

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 290-305. Number of citations: 6

    [doi:10.1016/j.spen.2016.11.004]

  • Cortés-Saladelafont E, Tristan-Noguero A, Artuch-Iriberri R, Altafaj X, Bayès A and Garcia-Cazorla A.

    Diseases of the Synaptic Vesicle: A Potential New Group of Neurometabolic Disorders Affecting Neurotransmission

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 306-320. Number of citations: 21

    [doi:10.1016/j.spen.2016.11.005]

  • Yubero-Siles D, Montero-Sanchez R, Martín-Mateos MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch-Iriberri R, CoQ deficiency study group, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Pérez-Dueñas B, Ortez-Gonzalez CI, Ramos F, Colomer J, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M and Brea-Calvo G.

    Secondary coenzyme Q(10) deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders

    Mitochondrion . 30: 51-58. Number of citations: 49

    [doi:10.1016/j.mito.2016.06.007]

  • Posset R, Garcia-Cazorla A, Valayannopoulos V, Teles EL, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortés-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S and Additional individual contributors of the E-IMD consortium.

    Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 39(5): 661-672. Number of citations: 48

    [doi:10.1007/s10545-016-9938-9]

  • Campistol-Plana J, Díez-Juan M, Callejón L, Fernandez-De Miguel A, Casado-Rio M, Garcia-Cazorla A, Lozano R and Artuch-Iriberri R.

    Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 58(8): 842-847. Number of citations: 24

    [doi:10.1111/dmcn.13114]

  • Tristan-Noguero A, Díez H, Jou-Munoz C, Pineda M, Ormazabal-Herrero A, Sánchez A, Artuch-Iriberri R and Garcia-Cazorla A.

    Study of a fetal brain affected by a severe form of tyrosine hydroxylase deficiency, a rare cause of early parkinsonism

    METABOLIC BRAIN DISEASE . 31(3): 705-709. Number of citations: 6

    [doi:10.1007/s11011-015-9780-z]

  • Yubero-Siles D, Brandi-Tarrau N, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Ribes A, Palau F, Artuch-Iriberri R, Armstrong-Moron J and Working Group.

    Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism

    PLoS One . 11(5): . Number of citations: 40

    [doi:10.1371/journal.pone.0156359]

  • Llorca-Cardeñosa A, Català-Mora J, Garcia-Cazorla A, Meavilla-Olivas SM and Castejón-Ponce E.

    Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: A case report.

    Archivos De La Sociedad Española De Oftalmología . 91(5): 236-239.

    [doi:10.1016/j.oftal.2016.01.006]

  • De Oyarzabal-Sanz AL, Bravo-Alonso I, Sánchez-Aragó M, Rejas MT, Merinero B, Garcia-Cazorla A, Artuch-Iriberri R, Ugarte M and Rodríguez-Pombo P.

    Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism

    BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE . 1862(4): 592-600. Number of citations: 24

    [doi:10.1016/j.bbadis.2016.01.016]

  • Valayannopoulos V, Baruteau J, Delgado MB, Cano A, Couce ML, Del Toro M, Donati MA, Garcia-Cazorla A, Gil-Ortega D, Gomez-de Quero P, Guffon N, Hofstede FC, Kalkan-Ucar S, Coker M, Lama-More R, Martinez-Pardo Casanova M, Molina A, Pichard S, Papadia F, Rosello P, Plisson C, Le Mouhaer J and Chakrapani A.

    Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

    ORPHANET JOURNAL OF RARE DISEASES . 11: 32-32. Number of citations: 30

    [doi:10.1186/s13023-016-0406-2]