Persones / Equip Humà

Maria del Carmen Fons Estupiña

Buscador de publicacions

Publicacions

  • De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.

    Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders

    JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Nº de cites: 33

    [doi:10.1007/s10545-010-9200-9]

  • 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 cites: 23

    [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 cites: 28

    [doi:10.1177/0883073809340696]

  • 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 cites: 9

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

  • 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 cites: 8

    [doi:10.1016/j.medcli.2009.06.065]

  • García-Villoria J, Navarro-Sastre A, Fons-Estupina C, Pérez-Cerdá C, Baldellou A, Fuentes-Castelló MA, González I, Hernández-Gonzalez A, Fernández C, Campistol-Plana J, Delpiccolo C, Cortés N, Messeguer A, Briones P and Ribes A.

    Study of patients and carriers with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency: Difficulties in the diagnosis

    CLINICAL BIOCHEMISTRY . 42(1-2): 27-33. Nº de cites: 29

    [doi:10.1016/j.clinbiochem.2008.10.006]

  • Fons-Estupina C, Vasconcelos M, Vidal M, Puy R, Capdevila A, Sanchez L and Campistol-Plana J.

    Agenesis of internal Carotid Artery in a Child With Ipsilateral Horner's Syndrome

    JOURNAL OF CHILD NEUROLOGY . 24(1): 101-104. Nº de cites: 8

    [doi:10.1177/0883073808321049]

  • Fons-Estupina C, Sempere A, Arias A, López-Sala A, Poo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch-Iriberri R and Campistol-Plana J.

    Arginine supplementation in four patients with X-linked creatine transporter defect

    JOURNAL OF INHERITED METABOLIC DISEASE . 31(6): 724-728. Nº de cites: 44

    [doi:10.1007/s10545-008-0902-1]

  • González Rabelino GA, Fons-Estupina C, Rey A, Roussos I and Campistol-Plana J.

    Craniectomy in herpetic encephalitis

    PEDIATRIC NEUROLOGY . 39(3): 201-203. Nº de cites: 26

    [doi:10.1016/j.pediatrneurol.2008.06.006]

  • Fons-Estupina C, Campistol-Plana J, Narbona J, Velázquez R, Eiris J and García Peñas JJ.

    Alternating hemiplegia of childhood in Spanish population. Study of a series of 17 patients

    MEDICINA CLINICA . 130(15): 577-579. Nº de cites: 4

    [doi:10.1157/13119979]