Publicacions
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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: 21
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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, Arias A, Farré G, García-Villoria J, Rodríguez-Pombo P, Desviat LR, Merinero B, Garcia-Cazorla A, Vilaseca MA, Ribes A, Artuch-Iriberri R and Campistol-Plana J.
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
JOURNAL OF INHERITED METABOLIC DISEASE . 33(1): 1-7. Nº de cites: 25
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Benavente-Fernández I, Garcia-Cazorla A, Jordán-García I, Capdevila-Cirera A and Campistol-Plana J.
Diffusion-weighted imaging in pediatric central nervous system infections
REVISTA DE NEUROLOGIA . 50(3): 133-138. Nº de cites: 2
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Gassió-Subirachs R, Vilaseca MA, Lambruschini N, Boix Lluch C, Fusté ME and Campistol-Plana J.
Cognitive functions in patients with phenylketonuria in long-term treatment with tetrahydrobiopterin
MOLECULAR GENETICS AND METABOLISM . 99(S): 75-78. Nº de cites: 16
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Vilaseca MA, Lambruschini N, Gomez-Lopez L, Gutiérrez A, Fusté E, Gassió-Subirachs R, Artuch-Iriberri R and Campistol-Plana J.
Quality of dietary control in phenylketonuric patients and its relationship with general intelligence
NUTRICION HOSPITALARIA . 25(1): 60-66. Nº de cites: 39
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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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Pérez-Dueñas B, De La Osa A, Capdevila A, Navarro-Sastre A, Leist A, Ribes A, Garcia-Cazorla A, Serrano M, Pineda M and Campistol-Plana J.
Brain injury in glutaric aciduria type I: The value of functional techniques in magnetic resonance imaging
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 13(6): 534-540. Nº de cites: 16
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Garcia-Cazorla A, Wolf NI, Serrano M, Pérez-Dueñas B, Pineda M, Campistol-Plana J, Fernández-Alvarez E, Colomer J, DiMauro S and Hoffmann GF.
Inborn errors of metabolism and motor disturbances in children
JOURNAL OF INHERITED METABOLIC DISEASE . 32(5): 618-629. Nº de cites: 40