Personas / Equipo Humano

MªAngels García Cazorla

Buscador de publicaciones

Publicaciones

  • Xiol-Viñas C, Vidal-Falcó S, Pascual-Alonso A, Blasco-Perez L, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, O'Callaghan-Gordo M, Pineda M and Armstrong-Moron J.

    X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients.

    SCIENTIFIC REPORTS . 9(1): 11983-11983. Nº de citas: 9

    [doi:10.1038/s41598-019-48385-w]

  • Posset R, Gropman AL, Nagamani SCS, Burrage LC, Bedoyan JK, Wong D, Berry GT, Baumgartner MR, Yudkoff M, Zielonka M, Hoffmann GF, Burgard P, Schulze A, McCandless SE, Garcia-Cazorla A, Seminara J, Garbade SF, Kölker S and UCDC and the E-IMD consortia study group.

    Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.

    ANNALS OF NEUROLOGY . 86(1): 116-128. Nº de citas: 40

    [doi:10.1002/ana.25492]

  • Saudubray JM, Mochel F, Lamari F and Garcia-Cazorla A.

    Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(4): 706-727. Nº de citas: 25

    [doi:10.1002/jimd.12086]

  • Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.

    Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

    SCIENTIFIC REPORTS . 9: 9128-9128. Nº de citas: 4

    [doi:10.1038/s41598-019-45674-2]

  • Soto D, Olivella M, Grau-Páez C, Armstrong-Moron J, Alcon C, Gasull X, Santos-Gómez A, Locubiche S, de Salazar MG, García-Díaz R, Gratacòs-Batlle E, Ramos-Vicente D, Chu-Van E, Colsch B, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.

    L-Serine dietary supplementation is associated with clinical improvement of loss-of-function GRIN2B-related pediatric encephalopathy

    SCIENCE SIGNALING . 12(586): . Nº de citas: 49

    [doi:10.1126/scisignal.aaw0936]

  • Sánchez-Iglesias S, Crocker M, O'Callaghan-Gordo M, Darling A, Garcia-Cazorla A, Domingo-Jiménez R, Castro A, Fernández-Pombo A, Ruibal Á, Aguiar P, Garrido-Pumar M, Rodríguez-Núñez A, Álvarez-Escudero J, Brown RJ and Araújo-Vilar D.

    Celia's encephalopathy and c.974dupG in BSCL2 gene: a hidden change in a known variant

    Neurogenetics . 20(2): 73-82. Nº de citas: 7

    [doi:10.1007/s10048-019-00574-5]

  • Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Lund, Allan M., Rizopoulos, Dimitris, Kolker, Stefan, Williams, Monique, Horster, F., Jelsig, A. M., de Lonlay, P., Wijburg, F. A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M. R., Haeberle, J., Blasco-Alonso, J., Burlina, A. B., Rubert, L., Garcia-Cazorla A, Saladelafont, E. Cortes, I, Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grunewald, S., Chakrapan, A., Hwu, Wuh-Liang, Chien, Yin-Hsiu, Lee, Ni-Chung, Karall, D., Scholl-Buergi, S., De Laet, C., Matsumoto, S., de Meirleir, L., Schiff, M., Pena-Qiuntana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I, Gil-Ortega, D., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Lusebrink, N., Jalan, A., Sokal, E., Legros, V, Nassogne, M. C. and Baric, I.

    Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment

    MOLECULAR GENETICS AND METABOLISM . 126(4): 397-405. Nº de citas: 20

    [doi:10.1016/j.ymgme.2019.02.003]

  • Valayannopoulos V, Schiff M, Guffon N, Nadjar Y, Garcia-Cazorla A, Martinez-Pardo Casanova M, Cano A, Couce ML, Dalmau J, Peña-Quintana L, Rigalleau V, Touati G, Aldamiz-Echevarria L, Cathebras P, Eyer D, Brunet D, Damaj L, Dobbelaere D, Gay C, Hiéronimus S, Levrat V and Maillot F.

    Betaine anhydrous in homocystinuria: results from the RoCH registry

    ORPHANET JOURNAL OF RARE DISEASES . 14: 66-66. Nº de citas: 14

    [doi:10.1186/s13023-019-1036-2]

  • Montero-Sanchez R, Yubero-Siles D, Salgado MC, González MJ, Campistol-Plana J, O'Callaghan-Gordo M, Pineda M, Delgadillo V, Maynou-Fernández J, Fernandez-Isern G, Montoya C, Ruiz-Pesini E, Meavilla-Olivas SM, Neergheen V, Garcia-Cazorla A, Navas P, Hargreaves I and Artuch-Iriberri R.

    Plasma coenzyme Q10 status is impaired in selected genetic conditions

    SCIENTIFIC REPORTS . 9: 793-793. Nº de citas: 26

    [doi:10.1038/s41598-018-37542-2]

  • Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless S, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P and Additional individual contributors of the UCDC and the E-IMD consortium.

    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 93-106. Nº de citas: 23

    [doi:10.1002/jimd.12031]