Publicacions
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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: 27
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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
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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
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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
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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
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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
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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
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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
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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: 52
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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