Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Sariego-Jamardo A, Garcia-Cazorla A, Artuch-Iriberri R, Castejón E, García-Arenas D, Molero M, Ormazabal-Herrero A and Sanmarti FX.

    Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels

    PEDIATRIC NEUROLOGY . 53(5): 422-426. Nº de cites: 15

    [doi:10.1016/j.pediatrneurol.2015.07.013]

  • Couce ML, Ramos F, Bueno MA, Díaz J, Meavilla-Olivas SM, Bóveda MD, Fernández-Marmiesse A and Garcia-Cazorla A.

    Evolution of maple syrup urine disease in patients diagnosed by newborn screening versus late diagnosis

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 19(6): 652-659. Nº de cites: 28

    [doi:10.1016/j.ejpn.2015.07.009]

  • Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez-Gonzalez CI, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M and Burgard P.

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

    JOURNAL OF INHERITED METABOLIC DISEASE . 38(6): 1041-1057. Nº de cites: 171

    [doi:10.1007/s10545-015-9839-3]

  • Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Baric I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez-Gonzalez CI, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM and Garcia-Cazorla A.

    The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

    JOURNAL OF INHERITED METABOLIC DISEASE . 38(6): 1059-1074. Nº de cites: 163

    [doi:10.1007/s10545-015-9840-x]

  • Serrano M, de Diego V, Muchart-Lopez J, Cuadras-Palleja D, Felipe A, Macaya A, Velazquez R, Poo P, Fons-Estupina C, O'Callaghan-Gordo M, Garcia-Cazorla A, Boix Lluch C, Robles B, Carratala F, Giros M, Briones P, Gort L, Artuch-Iriberri R, Perez-Cerda C, Jaeken J, Perez B and Pérez-Dueñas B.

    Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

    ORPHANET JOURNAL OF RARE DISEASES . 10: 138-138. Nº de cites: 46

    [doi:10.1186/s13023-015-0358-y]

  • Fernandes TG, Duarte ST, Ghazvini M, Gaspar C, Santos DC, Porteira AR, Rodrigues GM, Haupt S, Rombo DM, Armstrong-Moron J, Sebastião AM, Gribnau J, Garcia-Cazorla A, Brüstle O, Henrique D, Cabral JM and Diogo MM.

    Neural commitment of human pluripotent stem cells under defined conditions recapitulates neural development and generates patient-specific neural cells

    BIOTECHNOLOGY JOURNAL . 10(10): 1578-1588. Nº de cites: 25

    [doi:10.1002/biot.201400751]

  • Hole M, Underhaug J, Diez H, Ying M, Røhr ÅK, Jorge-Finnigan A, Fernàndez-Castillo N, Garcia-Cazorla A, Andersson KK, Teigen K and Martinez A.

    Discovery of compounds that protect tyrosine hydroxylase activity through different mechanisms

    BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS . 1854(9): 1078-1089. Nº de cites: 19

    [doi:10.1016/j.bbapap.2015.04.030]

  • Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell-Sampol L, Garcia-Cazorla A, Ozyürek H, Haliloglu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J and Doherty D.

    Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity

    JOURNAL OF MEDICAL GENETICS . 52(8): 514-522. Nº de cites: 203

    [doi:10.1136/jmedgenet-2015-103087]

  • Molero M, Serrano M, O'Callaghan-Gordo M, Sierra-March C, Pérez-Dueñas B, Garcia-Cazorla A and Artuch-Iriberri R.

    Clinical, etiological and therapeutic aspects of cerebral folate deficiency

    EXPERT REVIEW OF NEUROTHERAPEUTICS . 15(7): 793-802. Nº de cites: 20

    [doi:10.1586/14737175.2015.1055322]

  • O'Callaghan-Gordo M, Emperador S, Pineda M, López-Gallardo E, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, Jimenez-Mallebrera C, Nascimento-Osorio A, Ferrer I, Garcia-Cazorla A, Ruiz-Pesini E, Montoya J and Artuch-Iriberri R.

    Mutation loads in different tissues from six pathogenic mtDNA point mutations

    Mitochondrion . 22: 17-22. Nº de cites: 13

    [doi:10.1016/j.mito.2015.03.001]