Publications
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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: 12
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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: 8
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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: 9
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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. Number of citations: 15
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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. Number of citations: 7
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Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, Garcia-Cazorla A, González MJ, Plisson C and Giordano V.
Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
ORPHANET JOURNAL OF RARE DISEASES . 13: 97-97. Number of citations: 13
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Saudubray JM and Garcia-Cazorla A.
Inborn Errors of Metabolism Overview Pathophysiology, Manifestations, Evaluation, and Management
PEDIATRIC CLINICS OF NORTH AMERICA . 65(2): 179-208. Number of citations: 103
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Soto D, Olivella M, Grau C, Armstrong-Moron J, Alcon C, Gasull X, Gómez de Salazar M, Gratacòs-Batlle E, Ramos-Vicente D, Fernández-Dueñas V, Ciruela F, Bayés À, Sindreu C, López-Sala A, Garcia-Cazorla A and Altafaj X.
RETRACTED: Rett-like Severe Encephalopathy Caused by a De Novo GRIN2B Mutation Is Attenuated by D-serine Dietary Supplement (Retracted article. See vol. 83, pg. 715, 2018)
BIOLOGICAL PSYCHIATRY . 83(2): 160-172. Number of citations: 5
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Garcia-Cazorla A and Saudubray JM.
New insights in inborn errors of metabolism are leading to new paradigms in child neurology
REVISTA DE NEUROLOGIA . 66: 37-42.