Personas / Equipo Humano

MªAngels García Cazorla

Buscador de publicaciones

Publicaciones

  • De Oyarzabal-Sanz AL, Musokhranova U, Barros LF and Garcia-Cazorla A.

    Energy metabolism in childhood neurodevelopmental disorders

    EBioMedicine . 69: 103474-103474. Nº de citas: 52

    [doi:10.1016/j.ebiom.2021.103474]

  • Hübschmann OK, Mohr A, Friedman J, Manti F, Horvath G, Cortés-Saladelafont E, Mercimek-Andrews S, Yildiz Y, Pons R, Kulhánek J, Oppebøen M, Koht JA, Podzamczer-Valls I, Domingo-Jimenez R, Ibáñez S, Alcoverro-Fortuny O, Gómez-Alemany T, de Castro P, Alfonsi C, Zafeiriou DI, López-Laso E, Guder P, Santer R, Honzík T, Hoffmann GF, Garbade SF, Sivri HS, Leuzzi V, Jeltsch K, Garcia-Cazorla A, Opladen T, Harting I and International Working Group on Neurotransmitter Related Disorders.

    Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(4): 1070-1082. Nº de citas: 14

    [doi:10.1002/jimd.12360]

  • Natera-de Benito D, Sola A, Sousa PR, Boronat S, Exposito-Escudero JM, Carrera-García L, Ortez-Gonzalez CI, Jou-Munoz C, Muchart-Lopez J, Rebollo M, Armstrong-Moron J, Colomer J, Garcia-Cazorla A, Hoenicka J, Palau F and Nascimento-Osorio A.

    Copper Toxicity Associated With an ATP7A-Related Complex Phenotype

    PEDIATRIC NEUROLOGY . 119: 40-44. Nº de citas: 7

    [doi:10.1016/j.pediatrneurol.2021.03.005]

  • 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 citas: 28

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

  • Tristan-Noguero A, Borràs E, Molero M, Wassenberg T, Peters T, Verbeek MM, Willemsen M, Opladen T, Jeltsch K, Pons R, Thony B, Horvath G, Yapici Z, Friedman J, Hyland K, Agosta GE, López-Laso E, Artuch-Iriberri R, Sabidó E and Garcia-Cazorla A.

    Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity

    MOVEMENT DISORDERS . 36(3): 690-703. Nº de citas: 8

    [doi:10.1002/mds.28362]

  • Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Julià-Palacios NA, Garcia-Cazorla A, Dionisi-Vici C and Kölker S.

    U-IMD: the first Unified European registry for inherited metabolic diseases

    ORPHANET JOURNAL OF RARE DISEASES . 16(1): 95-95. Nº de citas: 20

    [doi:10.1186/s13023-021-01726-3]

  • Castells AA, Balada R, Tristan-Noguero A, O'Callaghan-Gordo M, Cortés-Saladelafont E, Pascual-Alonso A, Garcia-Cazorla A, Armstrong-Moron J and Alcántara S.

    Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

    Biomedicines . 9(2): 148. Nº de citas: 5

    [doi:10.3390/biomedicines9020148]

  • Ferreira CR, Rahman S, Keller M, Zschocke J and ICIMD Advisory Group.

    An international classification of inherited metabolic disorders (ICIMD)

    JOURNAL OF INHERITED METABOLIC DISEASE . 44(1): 164-177. Nº de citas: 210

    [doi:10.1002/jimd.12348]

  • García-Recio A, Santos-Gómez A, Soto D, Julià-Palacios NA, Garcia-Cazorla A, Altafaj X and Olivella M.

    GRIN database: A unified and manually curated repertoire of GRIN variants

    HUMAN MUTATION . 42(1): 8-18. Nº de citas: 32

    [doi:10.1002/humu.24141]

  • Marín Soria JL, López Galera RM, Argudo Ramírez A, González de Aledo JM, Pajares García S, Navarro Sastre A, Hernandez Pérez JM, Ribes Rubio A, Gort Mas L, García Villoria J, Gartner Tizano S, Rovira Amigo S, Asensio de la Cruz O, García González M, Cols M, Costa-Colomer J, Bádenas Orquin C, Yeste Fernández D, Campos Martorell A, Clemente León M, Mogas Viñals E, Ferrer Costa R, Giralt Arnaiz M, Campistol-Plana J, Garcia-Cazorla A, Beneitez Pastor D, Ortuño Cabrero A, Blanco Álvarez A, Tazón Vega B, Roué G, Velasco Puyo P, Murciano Carrillo T, Murillo Sanjuan L, Díaz de Heredia Rubio C, Mañú Pereira MDM, Vives Corrons JL, Arranz Amo JA, Carnicer Cáceres C, Del Toro Riera M, Ormazábal Herrero A, Artuch-Iriberri R, García-Volpe C, de los Santos MM, Sierra-March C, Ruiz-Hernández CJ, Meavilla-Olivas SM, Martín Nalda A, Rivière JG, Parra Martínez A, Soler Palacín P, Martínez Gallo M, Colobran R, Casals Senent T, Armelles Sebastia M, Vidal Benede MJ, Jané Checa M, Fernández Bordón RM, Asso Ministral L, Prats Viedma B and Cabezas Peña C.

    50 años del Programa de Cribado Neonatal en Cataluña.

    Revista espanola de salud publica . 94: 1-15.