Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Navarro-Sastre A, Tort F, Stehling O, Uzarska MA, Arranz JA, Del Toro M, Labayru MT, Landa J, Font A, Garcia-Villoria J, Merinero B, Ugarte M, Gutierrez-Solana LG, Campistol-Plana J, Garcia-Cazorla A, Vaquerizo J, Riudor E, Briones P, Elpeleg O, Ribes A and Lill R.

    A Fatal Mitochondrial Disease Is Associated with Defective NFU1 Function in the Maturation of a Subset of Mitochondrial Fe-S Proteins

    AMERICAN JOURNAL OF HUMAN GENETICS . 89(5): 656-667. Nº de cites: 257

    [doi:10.1016/j.ajhg.2011.10.005]

  • Tondo M, Málaga I, O'Callaghan-Gordo M, Serrano M, Emperador S, Ormazabal-Herrero A, Ruiz-Pesini E, Montoya J, Garcia-Silva MT, Martin-Hernandez E, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Biochemical parameters to assess choroid plexus dysfunction in Kearns-Sayre syndrome patients

    Mitochondrion . 11(6): 867-870. Nº de cites: 8

    [doi:10.1016/j.mito.2011.06.009]

  • Couce ML, Pérez-Cerdá C, García Silva MT, Garcia-Cazorla A, Martín-Hernández E, Castiñeiras D, Pineda M, Navarrete R, Campistol-Plana J, Fraga JM, Pérez B and Ugarte M.

    Clinical and genetic findings in patients with biotinidase deficiency detected through newborn screening or selective screening for hearing loss or inherited metabolic disease

    MEDICINA CLINICA . 137(11): 500-503. Nº de cites: 8

    [doi:10.1016/j.medcli.2011.01.018]

  • Garcia-Cazorla A, Ortez-Gonzalez CI, Pérez-Dueñas B, Serrano M, Pineda M, Campistol-Plana J and Fernández-Alvarez E.

    Hypokinetic-rigid syndrome in children and inborn errors of metabolism

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 15(4): 295-302. Nº de cites: 10

    [doi:10.1016/j.ejpn.2011.04.013]

  • Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, Garcia-Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF and Burgard P.

    Diagnosis and management of glutaric aciduria type I - revised recommendations

    JOURNAL OF INHERITED METABOLIC DISEASE . 34(3): 677-694. Nº de cites: 254

    [doi:10.1007/s10545-011-9289-5]

  • Serrano M, Ormazabal-Herrero A, Vilaseca MA, Lambruschini N, Garcia-Romero R, Meavilla S, Pérez-Dueñas B, Pineda M, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.

    Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders

    CLINICAL BIOCHEMISTRY . 44(8-9): 742-744. Nº de cites: 7

    [doi:10.1016/j.clinbiochem.2011.03.136]

  • Ormazabal-Herrero A, Pérez-Dueñas B, Sierra-March C, Urreitzi R, Montoya J, Serrano M, Campistol-Plana J, Garcia-Cazorla A, Pineda M and Artuch-Iriberri R.

    Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency

    CLINICAL BIOCHEMISTRY . 44(8-9): 719-721. Nº de cites: 13

    [doi:10.1016/j.clinbiochem.2011.03.002]

  • 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: 51

    [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]