Persones / Equip Humà

MªAngels García Cazorla

Buscador de publicacions

Publicacions

  • Klinke G, Richter S, Monostori P, Schmidt-Mader B, Garcia-Cazorla A, Artuch-Iriberri R, Christ S, Opladen T, Hoffmann GF, Blau N and Okun JG.

    Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(4): 712-725. Nº de cites: 9

    [doi:10.1002/jimd.12213]

  • Opladen T, López-Laso E, Cortés-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, Garcia-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch-Iriberri R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O and International Working Group on Neurotransmitter related Disorders (iNTD).

    Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

    ORPHANET JOURNAL OF RARE DISEASES . 15(1): 126-126. Nº de cites: 85

    [doi:10.1186/s13023-020-01379-8]

  • Zielonka M, Garbade SF, Gleich F, Okun JG, Nagamani SCS, Gropman AL, Hoffmann GF, Kölker S, Posset R and Urea Cycle Disorders Consortium (UCDC) and the European registry and network for.

    From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

    HUMAN MUTATION . 41(5): 946-960. Nº de cites: 14

    [doi:10.1002/humu.23983]

  • Ng J, Cortés-Saladelafont E, Abela L, Termsarasab P, Mankad K, Sudhakar S, Gorman KM, Heales SJR, Pope S, Biassoni L, Csányi B, Cain J, Rakshi K, Coutts H, Jayawant S, Jefferson R, Hughes D, Garcia-Cazorla A, Grozeva D, Raymond FL, Pérez-Dueñas B, De Goede C, Pearson TS, Meyer E and Kurian MA.

    DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia

    MOVEMENT DISORDERS . 35(8): 1357-1368. Nº de cites: 20

    [doi:10.1002/mds.28063]

  • Mingirulli N, Pyle A, Hathazi D, Alston CL, Kohlschmidt N, O'Grady G, Leigh W, Evesson F, Cooper SBT, Turner C, Duff J, Topf A, Yubero-Siles D, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Garcia-Cazorla A, Gross C, O'Callaghan-Gordo M, Santra S, Preece MA, Champion M, Korenev S, Chronopoulou E, Anirban M, Pierre G, McArthur D, Thompson K, Navas P, Ribes A, Tort F, Schlüter A, Pujol A, Montero-Sanchez R, Sarquella-Brugada G, Lochmüller H, Jimenez-Mallebrera C, Taylor RW, Artuch-Iriberri R, Kirschner J, Grünert SC, Roos A and Horvath R.

    Clinical presentation and proteomic signature of patients with TANGO2 mutations

    JOURNAL OF INHERITED METABOLIC DISEASE . 43(2): 297-308. Nº de cites: 40

    [doi:10.1002/jimd.12156]

  • Emperador S, Garrido-Pérez N, Amezcua-Gil J, Gaudó P, Andrés-Sanz JA, Yubero-Siles D, Fernández-Marmiesse A, O'Callaghan-Gordo M, Ortigoza-Escobar JD, Iriondo-Sanz M, Ruiz-Pesini E, Garcia-Cazorla A, Gil-Campos M, Artuch-Iriberri R, Montoya C and Bayona-Bafaluy MP.

    Molecular Characterization of New FBXL4 Mutations in Patients With mtDNA Depletion Syndrome

    Frontiers in Genetics . 10: 1300-1300. Nº de cites: 8

    [doi:10.3389/fgene.2019.01300]

  • De Oyarzabal-Sanz AL, Xiol-Viñas C, Castells AA, Grau-Páez C, O'Callaghan-Gordo M, Fernandez-Isern G, Alcántara S, Pineda M, Armstrong-Moron J, Altafaj X and Garcia-Cazorla A.

    Comprehensive Analysis of GABAA-A1R Developmental Alterations in Rett Syndrome: Setting the Focus for Therapeutic Targets in the Time Frame of the Disease

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 21(2): 518. Nº de cites: 9

    [doi:10.3390/ijms21020518]

  • Gaudó P, Emperador S, Garrido-Pérez N, Ruiz-Pesini E, Yubero-Siles D, Garcia-Cazorla A, Artuch-Iriberri R, Montoya C and Bayona-Bafaluy MP.

    Infectious stress triggers a POLG-related mitochondrial disease

    Neurogenetics . 21(1): 19-27. Nº de cites: 8

    [doi:10.1007/s10048-019-00593-2]

  • Batllori-Tragant M, Casado-Rio M, Sierra-March C, Salgado MDC, Marti-Sanchez L, Maynou-Fernández J, Fernandez-Isern G, Garcia-Cazorla A, Ormazabal-Herrero A, Molero M and Artuch-Iriberri R.

    Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins

    Fluids and Barriers of the CNS . 16(1): 34-34. Nº de cites: 9

    [doi:10.1186/s12987-019-0154-5]

  • Molema, Femke, Gleich, Florian, Burgard, Peter, van der Ploeg, Ans T., Summar, Marshall L., Chapman, Kimberly A., Baric, Ivo, Lund, Allan M., Koelker, Stefan, Williams, Monique, Hoerster, F., Jelsig, A. M., de Lonlay, P., Wijburg, F. A., Bosch, A., Freisinger, P., Posset, R., Augoustides-Savvopoulou, P., Avram, P., Deleanu, C., Baumgartner, M. R., Haberle, J., Blasco-Alonso, J., Burlina, A. B., Rubert, L., Garcia-Cazorla A, Cortes i Saladelafont, E., Dionisi-Vici, C., Martinelli, D., Dobbelaere, D., Mention, K., Grunewald, S., Chakrapani, A., Hwu, W. -L., Chien, Y. -H., Lee, N. -C., Karall, D., Scholl-Buergi, S., Lachmann, R., De Laet, C., Matsumoto, S., de Meirleir, L., Muehlhausen, C., Schiff, M., Pena-Quintana, L., Djordjevic, M., Sarajlija, A., Sykut-Cegielska, J., Wisniewska, A., Leao-Teles, E., Alves, S., Vara, R., Vives-Pinera, I., Ortega, D. G., Morris, A., Zeman, J., Honzik, T., Chabrol, B., Arnaudo, F., Cano, A., Thompson, N., Eyskens, F., Lindner, M., Luesebrink, N., Jalan, A., Sokal, E., Legros, V. and Nassogne, M. C..

    Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry

    JOURNAL OF INHERITED METABOLIC DISEASE . 42(6): 1162-1175. Nº de cites: 23

    [doi:10.1002/jimd.12066]