Buscador de publicaciones

Publicaciones

  • Fons-Estupina C, Arias A, Sempere A, Poo P, Pineda M, Mas A, López-Sala A, Garcia-Villoria J, Vilaseca MA, Ozaez L, Lluch M, Artuch-Iriberri R, Campistol-Plana J and Ribes A.

    Response to creatine analogs in fibroblasts and patients with creatine transporter deficiency

    MOLECULAR GENETICS AND METABOLISM . 99(3): 296-299. Nº de citas: 21

    [doi:10.1016/j.ymgme.2009.10.186]

  • Serrano M, Martins C, Pérez-Dueñas B, Gomez-Lopez L, Murgui E, Fons-Estupina C, Garcia-Cazorla A, Artuch-Iriberri R, Jara F, Arranz JA, Häberle J, Briones P, Campistol-Plana J, Pineda M and Vilaseca MA.

    Neuropsychiatric Manifestations in Late-Onset Urea Cycle Disorder Patients

    JOURNAL OF CHILD NEUROLOGY . 25(3): 352-358. Nº de citas: 27

    [doi:10.1177/0883073809340696]

  • Sempere A, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, Garcia-Cazorla A, Vilaseca MA, Ribes A, Artuch-Iriberri R and Campistol-Plana J.

    Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(1): 1-7. Nº de citas: 25

    [doi:10.1007/s10545-009-9004-y]

  • Vilaseca MA, Lambruschini N, Gomez-Lopez L, Gutiérrez A, Fusté E, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.

    Quality of dietary control in phenylketonuric patients and its relationship with general intelligence

    NUTRICION HOSPITALARIA . 25(1): 60-66. Nº de citas: 39

    [doi:10.3305/nh.2010.25.1.4482]

  • Sempere A, Fons-Estupina C, Arias A, Rodríguez-Pombo P, Colomer R, Merinero B, Alcaide P, Capdevila A, Ribes A, Artuch-Iriberri R and Campistol-Plana J.

    Creatine transporter deficiency in two adult patients with static encephalopathy

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(1): 91-96. Nº de citas: 9

    [doi:10.1007/s10545-009-1083-2]

  • Quintana E, Sturiale L, Montero-Sanchez R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch-Iriberri R and Briones P.

    Secondary disorders of glycosylation in inborn errors of fructose metabolism

    JOURNAL OF INHERITED METABOLIC DISEASE . 32(1): 273-278. Nº de citas: 21

    [doi:10.1007/s10545-009-1219-4]

  • Sempere A, Fons-Estupina C, Arias A, Rodríguez-Pombo P, Merinero B, Alcaide P, Capdevila A, Ribes A, Duque R, Eirís J, Poo P, Fernández-Alvarez E, Campistol-Plana J and Artuch-Iriberri R.

    Cerebral creatine deficiency: First Spanish patients harbouring mutations in GAMT gene

    MEDICINA CLINICA . 133(19): 745-749. Nº de citas: 8

    [doi:10.1016/j.medcli.2009.06.065]

  • Pérez-Dueñas B, Prior C, Ma Q, Fernández-Alvarez E, Setoain X, Artuch-Iriberri R and Pascual JM.

    Childhood Chorea With Cerebral Hypotrophy A Treatable GLUT1 Energy Failure Syndrome

    Archives of Neurology . 66(11): 1410-1414. Nº de citas: 24

    [doi:10.1001/archneurol.2009.236]

  • López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal-Herrero A, Artuch-Iriberri R and Beyer K.

    Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Cordoba (southern Spain)

    JOURNAL OF NEUROLOGY . 256(11): 1816-1824. Nº de citas: 11

    [doi:10.1007/s00415-009-5198-z]

  • Pérez-Dueñas B, Garcia-Cazorla A, Pineda M, Poo P, Campistol-Plana J, Cusi V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch-Iriberri R and Vilaseca MA.

    Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 13(5): 444-451. Nº de citas: 44

    [doi:10.1016/j.ejpn.2008.09.002]