Publications
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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
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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
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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: 68
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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: 28
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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
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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: 19
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Tristan-Noguero A and Garcia-Cazorla A.
Synaptic metabolism: a new approach to inborn errors of neurotransmissionKeywords
JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1065-1075. Number of citations: 11
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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
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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: 20
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Krueger DA, Capal JK, Curatolo P, Devinsky O, Ess K, Tzadok M, Koenig MK, Narayanan V, Ramos F, Jozwiak S, de Vries P, Jansen AC, Wong M, Mowat D, Lawson J, Bruns S, Franz DN and TSCure Research Group.
Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 22(6): 1066-1073. Number of citations: 58