Persones / Equip Humà

Maria del Carmen Fons Estupiña

Buscador de publicacions

Publicacions

  • 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: 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. 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]

  • 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: 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. Nº de cites: 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 . : .

  • Rodriguez H, Nou-Fontanet L, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Pias-Peleteiro LD, Gutierrez A, Perera A, Garcia-Cazorla A, Fons-Estupina C and Artuch-Iriberri R.

    Cerebrospinal amino acid profiling in a large cohort of neuropediatric patients with epilepsy.

    NEUROBIOLOGY OF DISEASE . : 107098-107098.

    [doi:10.1016/j.nbd.2025.107098]

  • Fons-Estupina C, Ge YH, Rasmussen LK, Shi YS and Bayat A.

    Mixed functional consequences of the N651D GRIA3 variant: a case of early-onset developmental and epileptic encephalopathy with parkinsonism.

    JOURNAL OF MEDICAL GENETICS . : .

    [doi:10.1136/jmg-2025-110855]