Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol-Plana J, Garcia-Cazorla A, Pérez-Dueñas B, Cerebral Calcification International Study Group, Chiapparini L, Garavaglia B and Orcesi S.

    Encephalopathies with intracranial calcification in children: clinical and genetic characterization.

    ORPHANET JOURNAL OF RARE DISEASES . 13(1): 135-135. Nº de cites: 17

    [doi:10.1186/s13023-018-0854-y]

  • Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.

    Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Nº de cites: 8

    [doi:10.1111/dmcn.13746]

  • Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, Garcia-Cazorla A, González MJ, Plisson C and Giordano V.

    Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.

    ORPHANET JOURNAL OF RARE DISEASES . 13(1): 97-97. Nº de cites: 13

    [doi:10.1186/s13023-018-0840-4]

  • Garcia-Cazorla A and Saudubray JM.

    Nuevos conocimientos sobre errores congenitos del metabolismo estan dando lugar a nuevos paradigmas en neuropediatria.

    REVISTA DE NEUROLOGIA . 66(s02): 37-42. Nº de cites: 1

  • Saudubray JM and Garcia-Cazorla A.

    Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.

    PEDIATRIC CLINICS OF NORTH AMERICA . 65(2): 179-208. Nº de cites: 117

    [doi:10.1016/j.pcl.2017.11.002]

  • Soto D, Olivella M, Grau C, Armstrong-Moron J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.

    Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement.

    BIOLOGICAL PSYCHIATRY . 83(2): 160-172. Nº de cites: 5

    [doi:10.1016/j.biopsych.2017.05.028]

  • Batllori-Tragant M, Molero M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol-Plana J, Ormazabal-Herrero A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E and Artuch-Iriberri R.

    Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

    SCIENTIFIC REPORTS . 7: 14675-14675. Nº de cites: 6

    [doi:10.1038/s41598-017-15063-8]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Casado-Rio M, Sierra-March C, Garcia-Cazorla A, Kurian M, Pope S, Heales SJ and Artuch-Iriberri R.

    Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC

    NATURE PROTOCOLS . 12(11): 2359-2375. Nº de cites: 28

    [doi:10.1038/nprot.2017.103]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    SCIENTIFIC REPORTS . 7(1): 12288-12288. Nº de cites: 19

    [doi:10.1038/s41598-017-11620-3]

  • Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, Garcia-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JL, Ugarte M, Pérez B, Pérez-Cerdá C and Rodríguez-Pombo P.

    Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease.

    HUMAN MUTATION . 38(6): 678-691. Nº de cites: 13

    [doi:10.1002/humu.23208]