Research

Paediatric Neurometabolic Disorders: Neural Communication Mechanisms and Personalised Therapies

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Publications

  • Revilla Orías MD, Xenia Alonso, Campistol-Plana J, Macaya A, Escofet C and Fons-Estupina C.

    Epilepsy in children with congenital hemiparesis secondary to perinatal ictus

    MEDICINA-BUENOS AIRES . 79(s3): 6-9.

  • 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 disorders-A successful strategy for clinical research of rare diseases.

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 93-106. Number of citations: 39

    [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: 13

    [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: 61

    [doi:10.31887/DCNS.2018.20.4/jmsaudubray]

  • Candela-Cantó SA, Aparicio J, Muchart-Lopez J, Baños-Carrasco P, Ramírez-Camacho A, Climent A, Alamar M, Jou-Munoz C, Rumià J, San Antonio-Arce MV, Arzimanoglou A and Ferrer Vidal-Barraquer E.

    Frameless robot-assisted stereoelectroencephalography for refractory epilepsy in pediatric patients: accuracy, usefulness, and technical issues

    ACTA NEUROCHIRURGICA . 160(12): 2489-2500. Number of citations: 27

    [doi:10.1007/s00701-018-3720-8]

  • 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: 10

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

  • 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]

  • Bosch de Basea M, Moriña D, Figuerola J, Barber I, Muchart-Lopez J, Lee C and Cardis E.

    Subtle excess in lifetime cancer risk related to CT scanning in Spanish young people.

    ENVIRONMENT INTERNATIONAL . 120: 1-10. Number of citations: 18

    [doi:10.1016/j.envint.2018.07.020]

  • 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: 15

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

  • Tristan-Noguero A and Garcia-Cazorla A.

    Synaptic metabolism: a new approach to inborn errors of neurotransmission.

    JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1065-1075. Number of citations: 10

    [doi:10.1007/s10545-018-0235-7]