Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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): . Nº de cites: 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. Nº de cites: 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. Nº de cites: 30

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

  • Jamiolkowski D, Kölker S, Glahn EM, Baric I, Zeman J, Baumgartner MR, Mühlhausen C, Garcia-Cazorla A, Gleich F, Haege G, Burgard P and E-IMD consortium.

    Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 39(2): 231-241. Nº de cites: 30

    [doi:10.1007/s10545-015-9887-8]

  • Montero-Sanchez R, Yubero-Siles D, Villarroya-Terrade J, Henares-Bonilla D, Jou-Munoz C, Rodríguez-García MA, Ramos F, Nascimento-Osorio A, Ortez-Gonzalez CI, Campistol-Plana J, Pérez-Dueñas B, O'Callaghan-Gordo M, Pineda M, Garcia-Cazorla A, Colomer J, Montoya J, Ruiz-Pesini E, Emperador S, Meznaric M, Campderros L, Kalko SG, Villarroya-Gombau F, Artuch-Iriberri R and Jimenez-Mallebrera C.

    GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction

    PLoS One . 11(2): . Nº de cites: 119

    [doi:10.1371/journal.pone.0148709]

  • Ferrer-Cortès X, Narbona J, Bujan N, Matalonga L, Del Toro M, Arranz JA, Riudor E, Garcia-Cazorla A, Jou-Munoz C, O'Callaghan-Gordo M, Pineda M, Montero-Sanchez R, Arias A, García-Villoria J, Alston CL, Taylor RW, Briones P, Ribes A and Tort F.

    A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis

    Mitochondrion . 26: 72-80. Nº de cites: 19

    [doi:10.1016/j.mito.2015.12.004]