Equip Humà

Maria del Carmen Fons Estupiña

Buscador de publicacions

Publicacions

  • Villar C, Campistol-Plana J, Fons-Estupina C, Armstrong-Moron J, Mas A, Ormazabal-Herrero A and Artuch-Iriberri R.

    Glycine and L-Arginine Treatment Causes Hyperhomocysteinemia in Cerebral Creatine Transporter Deficiency Patients

    Jimd Reports . 4: 13-16. Nº de cites: 4

    [doi:10.1007/8904_2011_41]

  • Bonastre-Blanco E, Jordán-García I, Fons-Estupina C, Medina-Cantillo J and Palomeque A.

    Plasmapheresis in a paediatric patient with transverse myelitis and Guillain-Barre syndrome secondary to infection by Mycoplasma pneumoniae

    REVISTA DE NEUROLOGIA . 53(7): 443-444. Nº de cites: 3

    [doi:10.33588/rn.5307.2011171]

  • Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.

    Undetectable Levels of CSF Amyloid-beta Peptide in a Patient with 17 beta-Hydroxysteroid Dehydrogenase Deficiency

    JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Nº de cites: 5

    [doi:10.3233/JAD-2011-110647]

  • Panagiotakaki E, Gobbi G, Neville B, Ebinger F, Campistol-Plana J, Nevsímalová S, Laan L, Casaer P, Spiel G, Giannotta M, Fons-Estupina C, Ninan M, Sange G, Schyns T, Vavassori R, Poncelin D and Arzimanoglou A.

    Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults

    BRAIN . 133(12): 3598-3610. Nº de cites: 115

    [doi:10.1093/brain/awq295]

  • García-Villoria J, Gort L, Madrigal I, Fons-Estupina C, Fernández C, Navarro-Sastre A, Milà M, Briones P, Garcia-Cazorla A, Campistol-Plana J and Ribes A.

    X-inactivation of HSD17B10 revealed by cDNA analysis in two female patients with 17 beta-hydroxysteroid dehydrogenase 10 deficiency

    EUROPEAN JOURNAL OF HUMAN GENETICS . 18(12): 1353-1355. Nº de cites: 7

    [doi:10.1038/ejhg.2010.118]

  • 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: 30

    [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: 20

    [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: 21

    [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: 7

    [doi:10.1016/j.medcli.2009.06.065]