Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • García-Villoria J, Gort L, Madrigal I, Fons-Estupina C, Fernández C, Navarro-Sastre A, Milà M, Briones P, Garcia-Cazorla A, Campistol-Plana J and Ribes A.

    X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17ß-hydroxysteroid dehydrogenase 10 deficiency

    EUROPEAN JOURNAL OF HUMAN GENETICS . 18(12): 1353-1355. Nº de cites: 9

    [doi:10.1038/ejhg.2010.118]

  • Espinós C, Garcia-Cazorla A, Martínez-Rubio D, Martínez-Martínez E, Vilaseca MA, Pérez-Dueñas B, Kožich V, Palau F and Artuch-Iriberri R.

    Ancient origin of the CTH alelle carrying the c. 200C>T (p.T67I) variant in patients with cystathioninuria

    CLINICAL GENETICS . 78(6): 554-559. Nº de cites: 10

    [doi:10.1111/j.1399-0004.2010.01431.x]

  • Pérez-Dueñas B, Toma C, Ormazabal-Herrero A, Muchart-Lopez J, Sanmartí F, Bombau G, Serrano M, Garcia-Cazorla A, Cormand B and Artuch-Iriberri R.

    Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 795-802. Nº de cites: 47

    [doi:10.1007/s10545-010-9196-1]

  • De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Nº de cites: 31

    [doi:10.1007/s10545-010-9200-9]

  • Tondo M, Lambruschini N, Gomez-Lopez L, Gutierrez A, Moreno J, Garcia-Cazorla A, Pérez-Dueñas B, Pineda M, Campistol-Plana J, Vilaseca MA and Artuch-Iriberri R.

    The monitoring of trace elements in blood samples from patients with inborn errors of metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . 33: 43-49. Nº de cites: 2

    [doi:10.1007/s10545-009-9015-8]

  • Pons R, Serrano M, Ormazabal-Herrero A, Toma C, Garcia-Cazorla A, Area E, Ribasés M, Kanavakis E, Drakaki K, Giannakopoulos A, Orfanou I, Youroukos S, Cormand B and Artuch-Iriberri R.

    Tyrosine Hydroxylase Deficiency in Three Greek Patients with a Common Ancestral Mutation

    MOVEMENT DISORDERS . 25(8): 1086-1090. Nº de cites: 17

    [doi:10.1002/mds.23002]

  • Marín-Valencia I, Vilaseca MA, Thió M, Garcia-Cazorla A, Artuch-Iriberri R and Campistol-Plana J.

    Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 14(2): 125-130. Nº de cites: 10

    [doi:10.1016/j.ejpn.2009.05.001]

  • Serrano M, Martins C, Pérez-Dueñas B, Gomez-Lopez L, Murgui E, Fons-Estupina C, Garcia-Cazorla A, Artuch-Iriberri R, Jara F, Arranz JA, Häberle J, Briones P, Campistol-Plana J, Pineda M and Vilaseca MA.

    Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

    JOURNAL OF CHILD NEUROLOGY . 25(3): 352-358. Nº de cites: 27

    [doi:10.1177/0883073809340696]

  • Benavente-Fernández I, Garcia-Cazorla A, Jordán-García I, Capdevila-Cirera A and Campistol-Plana J.

    Diffusion-weighted imaging in pediatric central nervous system infections

    REVISTA DE NEUROLOGIA . 50(3): 133-138. Nº de cites: 2

    [doi:10.33588/rn.5003.2008246]

  • Sempere A, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, Garcia-Cazorla A, Vilaseca MA, Ribes A, Artuch-Iriberri R and Campistol-Plana J.

    Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(1): 1-7. Nº de cites: 25

    [doi:10.1007/s10545-009-9004-y]