Publicacions
-
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
-
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
-
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
-
Velasco-Sánchez D, Gomez-Lopez L, Vilaseca MA, Serrano M, Massaguer S, Campistol-Plana J and Garcia-Cazorla A.
Cerebellar Hemorrhage in a Patient with Propionic Acidemia
Cerebellum . 8(3): 352-354. Nº de cites: 10
-
Marín-Valencia I, Serrano M, Ormazabal-Herrero A, Pérez-Dueñas B, Garcia-Cazorla A, Campistol-Plana J and Artuch-Iriberri R.
Biochemical diagnosis of dopaminergic disturbances in paediatric patients: Analysis of cerebrospinal fluid homovanillic acid and other biogenic amines
CLINICAL BIOCHEMISTRY . 41(16-17): 1306-1315. Nº de cites: 38
-
Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J, Torres RJ and Garcia-Cazorla A.
Levodopa therapy in a Lesch-Nyhan disease patient:: Pathological, biochemical, neuroimaging, and therapeutic remarks
MOVEMENT DISORDERS . 23(9): 1297-1300. Nº de cites: 17
-
Ormazabal-Herrero A, Oppenheim M, Serrano M, Garcia-Cazorla A, Campistol-Plana J, Ribes A, Ruiz A, Moreno J, Hyland K, Clayton P, Heales S and Artuch-Iriberri R.
Pyridoxal 5'-phosphate values in cerebrospinal fluid:: Reference values and diagnosis of PNPO deficiency in paediatric patients
MOLECULAR GENETICS AND METABOLISM . 94(2): 173-177. Nº de cites: 46
-
Garcia-Cazorla A, Duarte S, Serrano M, Nascimento-Osorio A, Ormazabal-Herrero A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M and Artuch-Iriberri R.
Mitochondrial diseases mimicking neuro transmitter defects
Mitochondrion . 8(3): 273-278. Nº de cites: 39
-
Ribasés M, Serrano M, Fernández-Alvarez E, Pahisa S, Ormazabal-Herrero A, Garcia-Cazorla A, Pérez-Dueñas B, Campistol-Plana J, Artuch-Iriberri R and Cormand B.
A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy:: Clinical, biochemical and genetic analysis
MOLECULAR GENETICS AND METABOLISM . 92(3): 274-277. Nº de cites: 28