Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • 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: 97-97. Nº de cites: 13

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

  • 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: 111

    [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.

    RETRACTED: Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement (Retracted article. See vol. 83, pg. 715, 2018)

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

    [doi:10.1016/j.biopsych.2017.05.028]

  • Garcia-Cazorla A and Saudubray JM.

    New insights in inborn errors of metabolism are leading to new paradigms in child neurology

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

  • 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: 24

    [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]

  • Wassenberg T, Molero M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch-Iriberri R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M and Opladen T.

    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    ORPHANET JOURNAL OF RARE DISEASES . 12: 12-12. Nº de cites: 152

    [doi:10.1186/s13023-016-0522-z]

  • Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S and Additional individual contributors.

    Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(1): 75-101. Nº de cites: 147

    [doi:10.1007/s10545-016-9999-9]