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Publications

  • Sierra-March C, Vilaseca MA, Brandi-Tarrau N, Artuch-Iriberri R, Mira A, Nieto M and Pineda M.

    Oxidative stress in Rett syndrome

    BRAIN & DEVELOPMENT . 23: 236-239. Number of citations: 61

    [doi:10.1016/S0387-7604(01)00369-2]

  • Vilaseca MA, Sierra-March C, Colomé C, Artuch-Iriberri R, Valls C, Munoz-Almagro C, Vilches MA and Fortuny-Guasch C.

    Hyperhomocysteinaemia and folate deficiency in human immunodeficiency virus-infected children

    EUROPEAN JOURNAL OF CLINICAL INVESTIGATION . 31(11): 992-998. Number of citations: 17

    [doi:10.1046/j.1365-2362.2001.00916.x]

  • Colomé C, Artuch-Iriberri R, Lambruschini N, Cambra-Lasaosa FJ, Campistol-Plana J and Vilaseca MA.

    Is there a relationship between plasma phenylalanine and cholesterol in phenylketonuric patients under dietary treatment?

    CLINICAL BIOCHEMISTRY . 34(5): 373-376. Number of citations: 23

    [doi:10.1016/S0009-9120(01)00249-1]

  • Artuch-Iriberri R, Colomé C, Vilaseca MA, Sierra-March C, Cambra-Lasaosa FJ, Lambruschini N and Campistol-Plana J.

    Plasma phenylalanine is associated with decreased serum ubiquinone-10 concentrations in phenylketonuria

    JOURNAL OF INHERITED METABOLIC DISEASE . 24(3): 359-366. Number of citations: 27

    [doi:10.1023/A:1010500502275]

  • Calvo M, Artuch-Iriberri R, Macià E, Luaces-Cubells C, Vilaseca MA, Pou Fernández J and Pineda M.

    Diagnostic approach to inborn errors of metabolism in an emergency unit

    PEDIATRIC EMERGENCY CARE . 16(6): 405-408. Number of citations: 21

    [doi:10.1097/00006565-200012000-00006]

  • Coelho-Miranda L, Playan A, Artuch-Iriberri R, Vilaseca MA, Colomer J, Briones P, Coll-Cantí J, Conill J, Sans A, López de Munain A, Solano A, Alcaine MJ, Montoya J and Pineda M.

    Mitochondrial encephalomyopathy, lactic acidosis and cerebrovascular accidents (MELAS) in children with the A3243G mutation of the tRNA(Leu)(UUR) gene of DNA mitochondria

    REVISTA DE NEUROLOGIA . 31(9): 804-811. Number of citations: 8

    [doi:10.33588/rn.3109.2000119]

  • Colomé C, Ferrer I, Artuch-Iriberri R, Vilaseca MA, Pineda M and Briones P.

    Personal experience with the application of carbohydrate-deficient transferrin (CDT) assays to the detection of congenital disorders of glycosylation

    CLINICAL CHEMISTRY AND LABORATORY MEDICINE . 38(10): 965-969. Number of citations: 12

    [doi:10.1515/CCLM.2000.143]

  • Pineda M, Vilaseca MA, Artuch-Iriberri R, Santos, S, Gonzalez, MMG, Sau, I, Aracil A, Van Schaftingen, E and Jaeken, J.

    3-phosphoglycerate dehydrogenase deficiency in a patient with West syndrome

    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY . 42(9): 629-633. Number of citations: 36

    [doi:10.1017/S0012162200001171]

  • Artuch-Iriberri R, Colome, C, Playan, A, Alcaine, MJ, Briones, P, Montoya, J, Vilaseca MA and Pineda M.

    Oxygen consumption measurement in lymphocytes for the diagnosis of pediatric patients with oxidative phosphorylation diseases

    CLINICAL BIOCHEMISTRY . 33(6): 481-485. Number of citations: 11

    [doi:10.1016/S0009-9120(00)00137-5]

  • Colomer J, Iturriaga, C, Bestue, M, Artuch-Iriberri R, Briones, P, Montoya, J, Vilaseca MA and Pineda M.

    Characterization of the neuropathy in mitochondrial disorders

    REVISTA DE NEUROLOGIA . 30(12): 1117-1121. Number of citations: 9

    [doi:10.33588/rn.3012.2000079]