People / Staff

MªAngels García Cazorla

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Publications

  • 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 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. Number of citations: 23

    [doi:10.1002/jimd.12031]

  • Jou-Munoz C, Ortigoza-Escobar JD, O'Callaghan-Gordo M, Nascimento-Osorio A, Darling A, Pias-Peleteiro L, Pérez-Dueñas B, Pineda M, Codina-Bergadà A, Arjona-Fernandez C, Armstrong-Moron J, Palau F, Ribes A, Gort L, Tort F, Navas P, Ruiz-Pesini E, Emperador S, Lopez-Gallardo E, Bayona-Bafaluy P, Montero-Sanchez R, Jimenez-Mallebrera C, Garcia-Cazorla A, Montoya C, Yubero-Siles D and Artuch-Iriberri R.

    Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

    Journal of Clinical Medicine . 8(1): . Number of citations: 12

    [doi:10.3390/jcm8010068]

  • Saudubray JM and Garcia-Cazorla A.

    An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders

    Dialogues in Clinical Neuroscience . 20(4): 301-325. Number of citations: 51

    [doi:10.31887/DCNS.2018.20.4/jmsaudubray]

  • Cortés-Saladelafont E, Lipstein N and Garcia-Cazorla A.

    Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1131-1145. Number of citations: 6

    [doi:10.1007/s10545-018-0230-z]

  • Garcia-Cazorla A and Saudubray JM.

    Cellular neurometabolism: a tentative to connect cell biology and metabolism in neurology

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1043-1054. Number of citations: 12

    [doi:10.1007/s10545-018-0226-8]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Number of citations: 9

    [doi:10.1007/s10545-018-0224-x]