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Publications

  • Pérez-Dueñas B, Cambra-Lasaosa FJ, Vilaseca MA, Lambruschini N, Campistol-Plana J and Camacho Díaz JA.

    New approach to osteopenia in phenylketonuric patients

    ACTA PAEDIATRICA . 91(8): 899-904. Number of citations: 48

    [doi:10.1080/080352502760148603]

  • Gonzalez-Luis G, Pons-Odena M, Cambra-Lasaosa FJ, Martin JM and Palomeque A.

    Use of the Pediatric Risk of Mortality Score as predictor of death and serious neurologic damage in children after submersion

    PEDIATRIC EMERGENCY CARE . 17(6): 405-409. Number of citations: 12

    [doi:10.1097/00006565-200112000-00002]

  • 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]

  • Mallolas J, Vilaseca MA, Pavia C, Lambruschini N, Cambra-Lasaosa FJ, Campistol-Plana J, Gómez D, Carrió A, Estivill X and Milà M.

    Large de novo deletion in chromosome 12 affecting the PAH, IGF1, ASCL1, and TRA1 genes

    JOURNAL OF MOLECULAR MEDICINE-JMM . 78(12): 721-724. Number of citations: 4

    [doi:10.1007/s001090000160]

  • Fernández-López A, Palomeque A, Cambra-Lasaosa FJ, Ortega, J, Costa-Clara JM, Caritg Bosch J and Martín Rodrigo, JM.

    Traumatismo cranoencefálico grave en el paciente pediátrico. Evaluación de la neuroimagen y monitorización de la presión intracraneal como factores pronóstico

    MEDICINA INTENSIVA . 25(1): 8-13.

  • 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]

  • Mallolas J, Vilaseca MA, Campistol-Plana J, Lambruschini N, Cambra-Lasaosa FJ, Fusté ME and Milà M.

    Clinical, biochemical, neurological and molecular studies of 11 patients with novel mutations of the PAH gene

    REVISTA DE NEUROLOGIA . 31(10): 907-910. Number of citations: 7

    [doi:10.33588/rn.3110.2000350]

  • Pons-Odena M, Febrer, A, Cambra-Lasaosa FJ, Martín Rodrigo, JM and Palomeque A.

    Ventilació no invasiva BIPAP amb mascareta nasal

    Pediatría Catalana . 60(4): 181-185.

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

    Decreased serum ubiquinone-10 concentrations in phenylketonuria

    AMERICAN JOURNAL OF CLINICAL NUTRITION . 70(5): 892-895. Number of citations: 55

  • Mallolas J, Vilaseca MA, Campistol-Plana J, Lambruschini N, Cambra-Lasaosa FJ, Estivill X and Milà M.

    Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia:: genotype-phenotype correlation

    HUMAN GENETICS . 105(5): 468-473. Number of citations: 32

    [doi:10.1007/s004390051132]