Persones / Equip Humà

Aida Ormazabal Herrero

Buscador de publicacions

Publicacions

  • Oliva-Mussara C, Arias A, Ruiz-Sala P, Garcia-Villoria J, Carling R, Bierau J, Ruijter GJG, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.

    Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes

    CLINICAL CHEMISTRY AND LABORATORY MEDICINE . : .

    [doi:10.1515/cclm-2023-1291]

  • Garcia-Arenas D, Barrau-Martinez B, Gonzalez-Rodriguez A, Llorach R, Campistol-Plana J, Garcia-Cazorla A, Ormazabal-Herrero A and Urpi-Sarda M.

    Effect of Special Low-Protein Foods Consumption in the Dietary Pattern and Biochemical Profile of Patients with Inborn Errors of Protein Metabolism: Application of a Database of Special Low-Protein Foods

    Nutrients . 15(15): .

    [doi:10.3390/nu15153475]

  • Oliva-Mussara C, Arias A, Ruiz M, Pujol A, Garrabou G, Canto-Santos J, Urreizti R, Castilla-Vallmanya L, Rodriguez H, Jou-Munoz C, Casado-Rio M, Ormazabal-Herrero A and Artuch-Iriberri R.

    Fibroblast phenylalanine concentration as a surrogate biomarker of cellular number

    JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES . 1226: 123787-123787.

    [doi:10.1016/j.jchromb.2023.123787]

  • Tangeraas T, Ribeiro J, Backe PH, De Oyarzabal-Sanz AL, Neugebauer J, Weinhold N, Boemer F, Debray FG, Ozturk-Hism B, Evren G, Tuba EF, Ummuhan O, Footitt E, Davison J, Martinez C, Bueno C, Machado I, Rodríguez-Pombo P, Al-Sannaa N, de los Santos MM, Muchart-Lopez J, Ozturkmen-Akay H, Karaca M, Tekin M, Pajares S, Ormazabal-Herrero A, Stoway SD, Artuch-Iriberri R, Dixon M, Mørkrid L and Garcia-Cazorla A.

    BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening

    BRAIN . 146(7): 3003-3013. Nº de cites: 3

    [doi:10.1093/brain/awad010]

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493. Nº de cites: 6

    [doi:10.1111/cge.14113]

  • Calvo-López A, Rebollo-Calderon B, Ormazabal-Herrero A, Artuch-Iriberri R, Rosell-Ferrer X, Alonso-Chamarro J and Puyol M.

    Biomedical point-of-care microanalyzer for potentiometric determination of ammonium ion in plasma and whole blood

    ANALYTICA CHIMICA ACTA . 1205: 339782-339782. Nº de cites: 3

    [doi:10.1016/j.aca.2022.339782]

  • Afia AB, Vila E, MacDowell KS, Ormazabal-Herrero A, Leza JC, Haro JM, Artuch-Iriberri R, Ramos B and Garcia-Bueno B.

    Kynurenine pathway in post-mortem prefrontal cortex and cerebellum in schizophrenia: relationship with monoamines and symptomatology

    JOURNAL OF NEUROINFLAMMATION . 18(1): 198-198. Nº de cites: 8

    [doi:10.1186/s12974-021-02260-6]

  • Darling A, Irún P, Giraldo P, Armstrong-Moron J, Gort L, Díaz-Conradi Á, Yubero-Siles D, De Oyarzabal-Sanz AL, Ormazabal-Herrero A, Artuch-Iriberri R, Garcia-Cazorla A and O'Callaghan-Gordo M.

    Pediatric Gaucher disease with intermediate type 2-3 phenotype associated with parkinsonian features and levodopa responsiveness

    PARKINSONISM & RELATED DISORDERS . 91: 19-22. Nº de cites: 1

    [doi:10.1016/j.parkreldis.2021.08.010]

  • Pajares S, Arranz JA, Ormazabal-Herrero A, Del Toro M, Garcia-Cazorla A, Navarro-Sastre A, López RM, Meavilla SM, de los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch-Iriberri R, Tort F, Gort L, Fernández R, García-Villoria J and Ribes A.

    Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns

    ORPHANET JOURNAL OF RARE DISEASES . 16(1): 195-195. Nº de cites: 17

    [doi:10.1186/s13023-021-01784-7]

  • Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.

    Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

    ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de cites: 18

    [doi:10.1007/s00401-020-02223-w]