Publicacions
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Fernández-Alvarez E, Garcia-Cazorla A, Sans A, Boix Lluch C, Vilaseca, A, Busquets, C and Ribes, A.
Hand tremor and orofacial dyskinesia:: Clinical manifestations of glutaric aciduria type I in a young girl
MOVEMENT DISORDERS . 18(9): 1076-1079. Nº de cites: 7
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Campistol-Plana J and Garcia-Cazorla A.
West's syndrome.: Analysis, aetiological factors and therapeutic options
REVISTA DE NEUROLOGIA . 37(4): 345-352. Nº de cites: 14
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Haut, S, Brivet, M, Touati, G, Rustin, P, Lebon, S, Garcia-Cazorla A, Saudubray, JM, Boutron, A, Legrand, A and Slama, A.
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
HUMAN GENETICS . 113(2): 118-122. Nº de cites: 119
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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. Nº de cites: 73
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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. Nº de cites: 1
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Noguera-Julián 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. Nº de cites: 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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Julià-Palacios NA, Olivella M, Sigatullina M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, SERGIO AGUILERA ALBESA, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera IF, Pérez M, Colomé-Roura R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal-Herrero A, Alonso-Colmenero I, Illescas KS, Balsells S, Marí-Vico R, Maria Duffo Viñas, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, L Muro V, Karall D, Zeiner F, Masnada S, Peterlongo I, De Oyarzabal-Sanz AL, Santos-Gómez A, Altafaj X and Garcia-Cazorla A.
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study.
BRAIN . : .
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Tokatly Latzer I, Bertoldi M, Blau N, DiBacco ML, Elsea SH, Garcia-Cazorla A, Gibson KM, Gropman AL, Hanson E, Hoffman C, Jeltsch K, Julià-Palacios NA, Knerr I, Lee HHC, Malaspina P, McConnell A, Opladen T, Oppebøen M, Rotenberg A, Walterfang M, Wang-Tso L, Wevers RA, Roullet JB and Pearl PL.
Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.
MOLECULAR GENETICS AND METABOLISM . 142(1): 108363-108363.
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Julià-Palacios NA, Kuseyri Hübschmann O, Olivella M, Pons R, Horvath G, Lücke T, Fung CW, Wong SN, Cortés-Saladelafont E, Rovira-Remisa MM, Yildiz Y, Mercimek-Andrews S, Assmann B, Stevanovic G, Manti F, Brennenstuhl H, Jung-Klawitter S, Jeltsch K, Sivri HS, Garbade SF, Garcia-Cazorla A and Opladen T.
The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.
JOURNAL OF INHERITED METABOLIC DISEASE . : .