Publicacions
-
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
-
Herrero-Martín MD, Pineda M, Briones P, López-Gallardo E, Carreras M, Benac M, Angel Idoate M, Vilaseca MA, Artuch-Iriberri R, López-Pérez MJ, Ruiz-Pesini E and Montoya J.
A new pathologic mitochondrial DNA mutation in the cytochrome oxidase subunit I (MT-CO1).
HUMAN MUTATION . 29(8): 112-22. Nº de cites: 18
-
Casarin A, Jimenez-Ortega JC, Trevisson E, Pertegato V, Doimo M, Ferrero-Gomez ML, Abbadi S, Artuch-Iriberri R, Quinzii C, Hirano M, Basso G, Ocaña CS, Navas P and Salviati L.
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS . 372(1): 35-39. Nº de cites: 54
-
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: 15
-
Gassió-Subirachs R, Artuch-Iriberri R, Vilaseca MA, Fusté E, Colomé-Roura R and Campistol-Plana J.
Cognitive functions and the antioxidant system in phenylketonuric patients
Neuropsychology . 22(4): 426-431. Nº de cites: 29
-
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
-
Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Hernández AR, Cordero MD, Trevisson E, Salviati L, Pineda M, Garcia-Cazorla A, Navas P and Artuch-Iriberri R.
Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes
CLINICAL BIOCHEMISTRY . 41(9): 697-700. Nº de cites: 59
-
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
-
Ruiz A, García-Villoria J, Ormazabal-Herrero A, Zschocke J, Fiol M, Navarro-Sastre A, Artuch-Iriberri R, Vilaseca MA and Ribes A.
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiency
MOLECULAR GENETICS AND METABOLISM . 93(2): 216-218. Nº de cites: 50
-
Duarte S, Sanmarti F, Gonzalez V, Pérez-Dueñas B, Ormazabal-Herrero A, Artuch-Iriberri R, Campistol-Plana J and Garcia-Cazorla A.
Cerebrospinal fluid pterins and neurotransmitters in early severe epileptic encephalopathies
BRAIN & DEVELOPMENT . 30(2): 106-111. Nº de cites: 19