People / Staff

Maria del Carmen Fons Estupiña

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Publications

  • 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. Number of citations: 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. Number of citations: 34

    [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. Number of citations: 9

    [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. Number of citations: 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. Number of citations: 27

    [doi:10.1016/j.pediatrneurol.2008.06.006]

  • Arias A, Corbella M, Fons-Estupina C, Sempere A, García-Villoria J, Ormazabal-Herrero A, Poo P, Pineda M, Vilaseca MA, Campistol-Plana J, Briones P, Pàmpols T, Salomons GS, Ribes A and Artuch-Iriberri R.

    Creatine transporter deficiency:: Prevalence among patients with mental retardation and pitfalls in metabolite screening

    CLINICAL BIOCHEMISTRY . 40(16-17): 1328-1331. Number of citations: 53

    [doi:10.1016/j.clinbiochem.2007.07.010]

  • Fons-Estupina C, Poo P, Colomer J and Campistol-Plana J.

    Moebius sequence:: Clinico-radiological findings

    REVISTA DE NEUROLOGIA . 44(10): 583-588. Number of citations: 10

    [doi:10.33588/rn.4410.2006051]

  • Cortés-Saladelafont E, Molero M, Duarte S, Casado-Rio M, Sierra-March C, O'Callaghan-Gordo M, Sanmarti FX, Fons-Estupina C, González V, Pérez-Dueñas B, Poo P, Ramos F, García-Alix A, Armstrong-Moron J, Artuch-Iriberri R and Garcia-Cazorla A.

    Supplementation with pyridoxal phosphate may be useful in diverse neuropediatric disorders.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . : .