Publications
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Brivet, M, Garcia-Cazorla A, Lyonnet, S, Dumez, Y, Nassogne, MC, Slama, A, Boutron, A, Touati, G, Legrand, A and Saudubray, JM.
Impaired mitochondrial pyruvate importation in a patient and a fetus at risk
MOLECULAR GENETICS AND METABOLISM . 78(3): 186-192. Number of citations: 77
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Vicente-Gutiérrez MP, Cambra-Lasaosa FJ, Campistol-Plana J, Garcia-Cazorla A, Munoz-Almagro C and Palomeque A.
Acute infantile bilateral thalamic necrosis
REVISTA DE NEUROLOGIA . 36(2): 122-125. Number of citations: 1
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Noguera-Julian A, Pérez-Dueñas B, Pons-Odena M, Cambra-Lasaosa FJ, Palomeque A, Fortuny-Guasch C, Garcia-Cazorla A and Campistol-Plana J.
Neurofibromatosis type 2 as a result of a de novo mutation:: A case report
REVISTA DE NEUROLOGIA . 35(11): 1030-1033. Number of citations: 3
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Cortés-Saladelafont E, Molero M, Duarte S, Casado-Rio M, Sierra-March C, O'Callaghan-Gordo M, Sanmarti FX, Fons-Estupina C, González V, Pérez-Dueñas B, Poo P, Ramos F, García-Alix A, Armstrong-Moron J, Artuch-Iriberri R and Garcia-Cazorla A.
Supplementation with pyridoxal phosphate may be useful in diverse neuropediatric disorders.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . : .
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Latzer IT, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, Garcia-Cazorla A, Julià-Palacios NA, Gibson KM, Bertoldi M and Pearl PL.
Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
research square . : .
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Díaz-Osorio Y, Gimeno-Agud H, Marí-Vico R, Illescas KS, Ramos JM, Darling A, Garcia-Cazorla A and De Oyarzabal-Sanz AL.
Spermidine Recovers the Autophagy Defects Underlying the Pathophysiology of Cell Trafficking Disorders.
JOURNAL OF INHERITED METABOLIC DISEASE . : .