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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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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Quintana E, Sturiale L, Montero-Sanchez R, Andrade F, Fernandez C, Couce ML, Barone R, Aldamiz-Echevarria L, Ribes A, Artuch-Iriberri R and Briones P.
Secondary disorders of glycosylation in inborn errors of fructose metabolism
JOURNAL OF INHERITED METABOLIC DISEASE . 32(1): 273-278. Nº de cites: 21
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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: 8
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Pérez-Dueñas B, Prior C, Ma Q, Fernández-Alvarez E, Setoain X, Artuch-Iriberri R and Pascual JM.
Childhood Chorea With Cerebral Hypotrophy A Treatable GLUT1 Energy Failure Syndrome
Archives of Neurology . 66(11): 1410-1414. Nº de cites: 24
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López-Laso E, Ochoa-Sepúlveda JJ, Ochoa-Amor JJ, Bescansa-Heredero E, Camino-León R, Gascón-Jiménez FJ, Mateos-González ME, Pérez-Navero JL, Lao-Villadóniga JI, Ormazabal-Herrero A, Artuch-Iriberri R and Beyer K.
Segawa syndrome due to mutation Q89X in the GCH1 gene: a possible founder effect in Cordoba (southern Spain)
JOURNAL OF NEUROLOGY . 256(11): 1816-1824. Nº de cites: 11
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Pérez-Dueñas B, Garcia-Cazorla A, Pineda M, Poo P, Campistol-Plana J, Cusi V, Schollen E, Matthijs G, Grunewald S, Briones P, Pérez-Cerdá C, Artuch-Iriberri R and Vilaseca MA.
Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 13(5): 444-451. Nº de cites: 44