Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Gissen P, Tee L, Johnson CA, Genin E, Caliebe A, Chitayat D, Clericuzio C, Denecke J, Di Rocco M, Fischler B, FitzPatrick D, Garcia-Cazorla A, Guyot D, Jacquemont S, Koletzko S, Leheup B, Mandel H, Sanseverino MT, Houwen RH, McKiernan PJ, Kelly DA and Maher ER.

    Clinical and molecular genetic features of ARC syndrome

    HUMAN GENETICS . 120(3): 396-409. Nº de cites: 89

    [doi:10.1007/s00439-006-0232-z]

  • Gömez L, Garcia-Cazorla A, Gutiérrez A, Artuch-Iriberri R, Varea V, Martín J, Pinillos S and Vilaseca MA.

    Treatment of severe osteoporosis with alendronate in a patient with lysinuric protein intolerance

    JOURNAL OF INHERITED METABOLIC DISEASE . 29(5): 687-687. Nº de cites: 9

    [doi:10.1007/s10545-006-0236-9]

  • 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 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. Nº de cites: 100

    [doi:10.1016/j.jneumeth.2004.08.007]