Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Pérez-Dueñas B, Ormazabal-Herrero A, Toma C, Torrico B, Cormand B, Serrano M, Sierra-March C, De Grandis E, Pineda M, Garcia-Cazorla A, Campistol-Plana J, Pascual JM and Artuch-Iriberri R.

    Cerebral Folate Deficiency Syndromes in Childhood Clinical, Analytical, and Etiologic Aspects

    Archives of Neurology . 68(5): 615-621. Nº de cites: 50

    [doi:10.1001/archneurol.2011.80]

  • Duarte ST, Ortez-Gonzalez CI, Pérez A, Artuch-Iriberri R and Garcia-Cazorla A.

    Analysis of synaptic proteins in the cerebrospinal fluid as a new tool in the study of inborn errors of neurotransmission

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(2): 523-528. Nº de cites: 7

    [doi:10.1007/s10545-010-9256-6]

  • Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.

    Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency

    JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Nº de cites: 6

    [doi:10.3233/JAD-2011-110647]

  • 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]

  • 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: 33

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

  • 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: 48

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

  • 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: 11

    [doi:10.1016/j.ejpn.2009.05.001]