Publicacions
-
Marín-Valencia I, Vilaseca MA, Thió M, Garcia-Cazorla A, Artuch-Iriberri R and Campistol-Plana J.
Assessment of the perimortem protocol in neonates for the diagnosis of inborn errors of metabolism
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 14(2): 125-130. Nº de cites: 11
-
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
-
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
-
Serrano M, Ormazabal-Herrero A, Anton-Lopez J, Aróstegui JI and Garcia-Cazorla A.
Cerebrospinal Fluid Neopterin and Cryopyrin-Associated Periodic Syndrome
PEDIATRIC NEUROLOGY . 41(6): 448-450. Nº de cites: 7
-
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: 17
-
Richard E, Jorge-Finnigan A, Garcia-Villoria J, Merinero B, Desviat LR, Gort L, Briones P, Leal F, Pérez-Cerdá C, Ribes A, Ugarte M and Pérez-Dueñas B.
Genetic and Cellular Studies of Oxidative Stress in Methylmalonic Aciduria (MMA) Cobalamin Deficiency Type C (cblC) With Homocystinuria (MMACHC)
HUMAN MUTATION . 30(11): 1558-1566. Nº de cites: 85
-
Wolf NI, Garcia-Cazorla A and Hoffmann GF.
Epilepsy and inborn errors of metabolism in children
JOURNAL OF INHERITED METABOLIC DISEASE . 32(5): 609-617. Nº de cites: 42
-
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: 41
-
Garcia-Cazorla A, Wolf NI, Serrano M, Moog U, Pérez-Dueñas B, Poo P, Pineda M, Campistol-Plana J and Hoffmann GF.
Mental retardation and inborn errors of metabolism
JOURNAL OF INHERITED METABOLIC DISEASE . 32(5): 597-608. Nº de cites: 49
-
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: 46