Publicacions
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Quintana E, Montero-Sanchez R, Casado-Rio M, Navarro-Sastre A, Vilaseca MA, Briones P and Artuch-Iriberri R.
Comparison between high performance liquid chromatography and capillary zone electrophoresis for the diagnosis of congenital disorders of glycosylation
JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES . 877(24): 2513-2518. Nº de cites: 20
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Espinós C, Pineda M, Martínez-Rubio D, Lupo V, Ormazabal-Herrero A, Vilaseca MA, Spaapen LJ, Palau F and Artuch-Iriberri R.
Mutations in the urocanase gene UROC1 are associated with urocanic aciduria
JOURNAL OF MEDICAL GENETICS . 46(6): 407-411. Nº de cites: 14
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Montero-Sanchez R, Sánchez-Alcázar JA, Briones P, Navarro-Sastre A, Gallardo E, Bornstein B, Herrero-Martín D, Rivera H, Martin MA, Marti R, Garcia-Cazorla A, Montoya J, Navas P and Artuch-Iriberri R.
Coenzyme Q10 deficiency associated with a mitochondrial DNA depletion syndrome: A case report
CLINICAL BIOCHEMISTRY . 42(7-8): 742-745. Nº de cites: 23
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Roche-Martinez A, Pérez-Dueñas B, Camacho Díaz JA, Torres RJ, Puig JG, Garcia-Cazorla A and Artuch-Iriberri R.
Efficacy of Rasburicase in Hyperuricemia Secondary to Lesch-Nyhan Syndrome
AMERICAN JOURNAL OF KIDNEY DISEASES . 53(4): 677-680. Nº de cites: 32
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Quintana E, Navarro-Sastre A, Hernández-Pérez JM, García-Villoria J, Montero-Sanchez R, Artuch-Iriberri R, Ribes A and Briones P.
Screening for congenital disorders of glycosylation (CDG): Transferrin HPLC versus isoelectric focusing (IEF)
CLINICAL BIOCHEMISTRY . 42(4-5): 408-415. Nº de cites: 24
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Artuch-Iriberri R, Salviati L, Jackson S, Hirano M and Navas P.
Coenzyme Q10 Deficiencies in Neuromuscular Diseases
Advances in Experimental Medicine and Biology . 652: 117-128. Nº de cites: 19
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Rodríguez-Hernández A, Cordero MD, Salviati L, Artuch-Iriberri R, Pineda M, Briones P, Gómez Izquierdo L, Cotán D, Navas P and Sánchez-Alcázar JA.
Coenzyme Q deficiency triggers mitochondria degradation by mitophagy
Autophagy . 5(1): 19-32. Nº de cites: 164
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Temudo T, Rios M, Prior C, Carrilho I, Santos M, Maciel P, Sequeiros J, Fonseca M, Monteiro J, Cabral P, Vieira JP, Ormazabal-Herrero A and Artuch-Iriberri R.
Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment
BRAIN & DEVELOPMENT . 31(1): 46-51. Nº de cites: 40
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Fons-Estupina C, Sempere A, Arias A, López-Sala A, Poo P, Pineda M, Mas A, Vilaseca MA, Salomons GS, Ribes A, Artuch-Iriberri R and Campistol-Plana J.
Arginine supplementation in four patients with X-linked creatine transporter defect
JOURNAL OF INHERITED METABOLIC DISEASE . 31(6): 724-728. Nº de cites: 44
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Pineda M, Arpa J, Montero R, Aracil A, Domínguez F, Galván M, Mas A, Martorell-Sampol L, Sierra-March C, Brandi-Tarrau N, García-Arumí E, Rissech M, Velasco D, Costa JA and Artuch-Iriberri R.
Idebenone treatment in paediatric and adult patients with Friedreich ataxia: Long-term follow-up
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 12(6): 470-475. Nº de cites: 83