Equip Humà

Maria del Carmen Fons Estupiña

Buscador de publicacions

Publicacions

  • 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: 27

    [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: 42

    [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: 25

    [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]

  • 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. Nº de cites: 48

    [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. Nº de cites: 7

    [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 . : .

  • Sentmanat MK, Papadopoulou MT, Prange L, Fons-Estupina C, De Grandis E, Vezyroglou A, Boggs A, Su S, Comajuan M, Wuchich J, Jóhannesson S, Huaynate JA, Stagnaro M, Megvinov A, Patel S, Arzimanoglou A, Vavassori R, Panagiotakaki E and Mikati MA.

    Development and testing of methods to record and follow up spells in patients with alternating hemiplegia of childhood.

    EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 46: 98-107.

    [doi:10.1016/j.ejpn.2023.07.005]