Publicacions
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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 cites: 28
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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 disordersA successful strategy for clinical research of rare diseases
JOURNAL OF INHERITED METABOLIC DISEASE . 42(1): 93-106. Nº de cites: 30
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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): . Nº de cites: 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. Nº de cites: 58
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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. Nº de cites: 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. Nº de cites: 13
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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. Nº de cites: 9
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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. Nº de cites: 10
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Tonduti D, Panteghini C, Pichiecchio A, Decio A, Carecchio M, Reale C, Moroni I, Nardocci N, Campistol-Plana J, Garcia-Cazorla A, Pérez-Dueñas B, Cerebral Calcification International Study Group, Chiapparini L, Garavaglia B and Orcesi S.
Encephalopathies with intracranial calcification in children: clinical and genetic characterization
ORPHANET JOURNAL OF RARE DISEASES . 13: 135-135. Nº de cites: 16
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Cortés-Saladelafont E, Molero M, Cuadras-Palleja D, Casado-Rio M, Armstrong-Moron J, Yubero-Siles D, Montoya J, Artuch-Iriberri R and Garcia-Cazorla A.
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 60(8): 780-792. Nº de cites: 8