People / Staff

MªAngels García Cazorla

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Publications

  • Batllori-Tragant M, Molero M, Arrabal L, Heras JL, Fernandez-Ramos JA, Gutiérrez-Solana LG, Ibáñez-Micó S, Domingo R, Campistol-Plana J, Ormazabal-Herrero A, Sedel F, Opladen T, Zouvelou B, Pons R, Garcia-Cazorla A, Lopez-Laso E and Artuch-Iriberri R.

    Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients

    SCIENTIFIC REPORTS . 7: 14675-14675. Number of citations: 6

    [doi:10.1038/s41598-017-15063-8]

  • Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Casado-Rio M, Sierra-March C, Garcia-Cazorla A, Kurian M, Pope S, Heales SJ and Artuch-Iriberri R.

    Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC

    NATURE PROTOCOLS . 12(11): 2359-2375. Number of citations: 21

    [doi:10.1038/nprot.2017.103]

  • Vidal-Falcó S, Brandi-Tarrau N, Pacheco-Fernández P, Gerotina E, Blasco-Perez L, Trotta JR, Derdak S, O'Callaghan-Gordo M, Garcia-Cazorla A, Pineda M and Armstrong-Moron J.

    The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

    SCIENTIFIC REPORTS . 7(1): 12288-12288. Number of citations: 18

    [doi:10.1038/s41598-017-11620-3]

  • Bravo-Alonso I, Navarrete R, Arribas-Carreira L, Perona A, Abia D, Couce ML, Garcia-Cazorla A, Morais A, Domingo R, Ramos MA, Swanson MA, Van Hove JL, Ugarte M, Pérez B, Pérez-Cerdá C and Rodríguez-Pombo P.

    Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease

    HUMAN MUTATION . 38(6): 678-691. Number of citations: 13

    [doi:10.1002/humu.23208]

  • Wassenberg T, Molero M, Jeltsch K, Hoffmann GF, Assmann B, Blau N, Garcia-Cazorla A, Artuch-Iriberri R, Pons R, Pearson TS, Leuzzi V, Mastrangelo M, Pearl PL, Lee WT, Kurian MA, Heales S, Flint L, Verbeek M, Willemsen M and Opladen T.

    Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

    ORPHANET JOURNAL OF RARE DISEASES . 12: 12-12. Number of citations: 146

    [doi:10.1186/s13023-016-0522-z]

  • Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S and Additional individual contributors.

    Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(1): 75-101. Number of citations: 138

    [doi:10.1007/s10545-016-9999-9]

  • Huemer M, Diodato D, Schwahn B, Schiff M, Bandeira A, Benoist JF, Burlina A, Cerone R, Couce ML, Garcia-Cazorla A, la Marca G, Pasquini E, Vilarinho L, Weisfeld-Adams JD, Kožich V, Blom H, Baumgartner MR and Dionisi-Vici C.

    Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

    JOURNAL OF INHERITED METABOLIC DISEASE . 40(1): 21-48. Number of citations: 186

    [doi:10.1007/s10545-016-9991-4]

  • Yubero-Siles D, Adin A, Montero-Sanchez R, Jou-Munoz C, Jimenez-Mallebrera C, Garcia-Cazorla A, Nascimento-Osorio A, O'Callaghan-Gordo M, Montoya J, Gort L, Navas P, Ribes A, Ugarte MD and Artuch-Iriberri R.

    A statistical algorithm showing coenzyme Q10 and citrate synthase as biomarkers for mitochondrial respiratory chain enzyme activities

    SCIENTIFIC REPORTS . 6: 15-15. Number of citations: 11

    [doi:10.1038/s41598-016-0008-1]

  • Opladen T, Cortés-Saladelafont E, Mastrangelo M, Horvath G, Pons R, Lopez-Laso E, Fernández-Ramos JA, Honzik T, Pearson T, Friedman J, Scholl-Bürgi S, Wassenberg T, Jung-Klawitter S, Kuseyri O, Jeltsch K, Kurian MA, Garcia-Cazorla A and International Working Group on Neurotransmitter related disorders (iNTD).

    The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

    Molecular genetics and metabolism reports . 9: 61-66. Number of citations: 41

    [doi:10.1016/j.ymgmr.2016.09.006]

  • Cortés-Saladelafont E, Molero M, Hsjd Working Group, Artuch-Iriberri R and Garcia-Cazorla A.

    Pyridoxal Phosphate Supplementation in Neuropediatric Disorders

    SEMINARS IN PEDIATRIC NEUROLOGY . 23(4): 351-358. Number of citations: 4

    [doi:10.1016/j.spen.2016.11.009]