People / Staff

MªAngels García Cazorla

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Publications

  • Ortez-Gonzalez CI, Duarte ST, Ormazabal-Herrero A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Alvarez E, Domingo-Jiménez R, De Castro P, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency

    MOLECULAR GENETICS AND METABOLISM . 114(1): 34-40. Number of citations: 14

    [doi:10.1016/j.ymgme.2014.10.014]

  • Garcia-Cazorla A, Mochel F, Lamari F and Saudubray JM.

    The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview

    JOURNAL OF INHERITED METABOLIC DISEASE . 38(1): 19-40. Number of citations: 37

    [doi:10.1007/s10545-014-9776-6]

  • Quijada-Fraile P, O'Callaghan-Gordo M, Martín-Hernández E, Montero-Sanchez R, Garcia-Cazorla A, de Aragón A, Muchart-Lopez J, Málaga I, Pardo R, García-Gonzalez P, Jou-Munoz C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin M, Ormazabal-Herrero A, Pineda M, García-Silva MT and Artuch-Iriberri R.

    Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome

    ORPHANET JOURNAL OF RARE DISEASES . 9: 217-217. Number of citations: 34

    [doi:10.1186/s13023-014-0217-2]

  • Natera-De Benito D, Poo P, Gean Molins E, Vicente-Villa MA, Garcia-Cazorla A and Fons-Estupina C.

    Diploid/triploid mosaicism: a variable but characteristic phenotype

    REVISTA DE NEUROLOGIA . 59(4): 158-163. Number of citations: 2

    [doi:10.33588/rn.5904.2014077]

  • Garcia-Cazorla A and Duarte ST.

    Parkinsonism and inborn errors of metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . 37(4): 627-642. Number of citations: 18

    [doi:10.1007/s10545-014-9723-6]

  • Garcia-Cazorla A, De Oyarzabal-Sanz AL, Fort J, Robles C, Castejón E, Ruiz-Sala P, Bodoy S, Merinero B, López-Sala A, Dopazo J, Nunes V, Ugarte M, Artuch-Iriberri R, Palacín M and Rodríguez-Pombo P.

    Two Novel Mutations in the BCKDK (Branched-Chain Keto-Acid Dehydrogenase Kinase) Gene Are Responsible for a Neurobehavioral Deficit in Two Pediatric Unrelated Patients

    HUMAN MUTATION . 35(4): 470-477. Number of citations: 65

    [doi:10.1002/humu.22513]

  • Casado-Rio M, Molero M, Sierra-March C, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Analysis of cerebrospinal fluid ?-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection

    Electrophoresis . 35(8): 1181-1187. Number of citations: 11

    [doi:10.1002/elps.201300261]

  • Tort F, Ferrer-Cortès X, Thió M, Navarro-Sastre A, Matalonga L, Quintana E, Bujan N, Arias A, García-Villoria J, Acquaviva C, Vianey-Saban C, Artuch-Iriberri R, Garcia-Cazorla A, Briones P and Ribes A.

    Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes

    HUMAN MOLECULAR GENETICS . 23(7): 1907-1915. Number of citations: 66

    [doi:10.1093/hmg/ddt585]

  • Molero M, Fernández-Ureña S, Jordán-García I, Serrano M, Ormazabal-Herrero A, Garcia-Cazorla A and Artuch-Iriberri R.

    Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes

    PLoS One . 8(12): . Number of citations: 24

    [doi:10.1371/journal.pone.0083237]

  • Ortez-Gonzalez CI, Jou-Munoz C, Cortés-Saladelafont E, Moreno J, Pérez A, Ormazabal-Herrero A, Pérez-Cerdá C, Pérez B, Artuch-Iriberri R, Cusi V and Garcia-Cazorla A.

    Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency

    Gene . 532(2): 302-306. Number of citations: 12

    [doi:10.1016/j.gene.2013.08.036]