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Publications

  • Garcia-Cazorla A, De Lonlay P, Rustin P, Chretien D, Touati G, Rabier D, Slama A and Saudubray JM.

    Mitochondrial respiratory chain deficiencies expressing the enzymatic deficiency in the hepatic tissue:: A study of 31 patients

    JOURNAL OF PEDIATRICS . 149(3): 401-405. Number of citations: 14

    [doi:10.1016/j.jpeds.2006.05.036]

  • Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Gonzalez V, Fernández-Alvarez E, Pineda M, Campistol-Plana J and Artuch-Iriberri R.

    Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients:: Reference values for a paediatric population

    CLINICA CHIMICA ACTA . 371(1-2): 159-162. Number of citations: 44

    [doi:10.1016/j.cca.2006.03.004]

  • Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Ruiz A, López Laso E, García Silva M, Carilho I, Barbot C, Cormand B, Ribases M, Moller L, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.

    Usefulness of analysis of cerebrospinal fluid for the diagnosis of neurotransmitters and pterin defects and glucose and folate transport deficiencies across blood brain barrier

    MEDICINA CLINICA . 127(3): 81-85. Number of citations: 6

    [doi:10.1157/13090262]

  • Garcia-Cazorla A, Rabier D, Touati G, Chadefaux-Vekemans B, Marsac C, de Lonlay P and Saudubray JM.

    Pyruvate carboxylase deficiency:: Metabolic characteristics and new neurological aspects

    ANNALS OF NEUROLOGY . 59(1): 121-127. Number of citations: 60

    [doi:10.1002/ana.20709]

  • Garcia-Cazorla A, De Lonlay P, Nassogne MC, Rustin P, Touati G and Saudubray JM.

    Long-term follow-up of neonatal mitochondrial cytopathies:: A study of 57 patients

    Pediatrics . 116(5): 1170-1177. Number of citations: 42

    [doi:10.1542/peds.2004-2407]

  • Garcia-Cazorla A, Ormazabal-Herrero A, Artuch-Iriberri R, Pérez-Dueñas B, López-Casas J, Fernández-Alvarez E and Campistol-Plana J.

    Inborn errors of neurotransmitters in neuropaediatrics

    REVISTA DE NEUROLOGIA . 41(2): 99-108. Number of citations: 5

    [doi:10.33588/rn.4102.2004377]

  • Campistol-Plana J, Malaga-Dieguez, I, Garcia-Cazorla A, Krauel-Vidal, X and Vilaseca MA.

    Inborn errors of metabolism with neurological symptomathology in the neonatal period

    REVISTA DE NEUROLOGIA . 40(6): 321-326. Number of citations: 2

    [doi:10.33588/rn.4006.2004232]

  • Ormazabal-Herrero A, Garcia-Cazorla A, Fernández Y, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.

    HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins

    JOURNAL OF NEUROSCIENCE METHODS . 142(1): 153-158. Number of citations: 100

    [doi:10.1016/j.jneumeth.2004.08.007]

  • Pancho C, Garcia-Cazorla A, Varea V, Artuch-Iriberri R, Ferrer I, Vilaseca MA, Briones P and Campistol-Plana J.

    Congenital disorder of glycosylation type la revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment

    JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION . 40(2): 230-232. Number of citations: 12

    [doi:10.1097/00005176-200502000-00030]

  • Montero-Sanchez R, Artuch-Iriberri R, Briones P, Nascimento-Osorio A, Garcia-Cazorla A, Vilaseca MA, Sánchez-Alcázar JA, Navas P, Montoya J and Pineda M.

    Muscle coenzyme Q10 concentrations in patients with probable and definite diagnosis of respiratory chain disorders

    Biofactors . 25(1-4): 109-115. Number of citations: 38

    [doi:10.1002/biof.5520250112]