Publicaciones
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O'Callaghan-Gordo M, Emperador S, López-Gallardo E, Jou-Munoz C, Buján N, Montero-Sanchez R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch-Iriberri R and Montoya J.
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset
Neurogenetics . 13(3): 245-250. Nº de citas: 18
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Casado-Rio M, O'Callaghan-Gordo M, Montero-Sanchez R, Pérez-Cerda C, Pérez B, Briones P, Quintana E, Muchart-Lopez J, Aracil A, Pineda M and Artuch-Iriberri R.
Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)
Cerebellum . 11(2): 557-563. Nº de citas: 23
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Delgadillo V, O'Callaghan-Gordo M, Artuch-Iriberri R, Montero-Sanchez R and Pineda M.
Genistein supplementation in patients affected by Sanfilippo disease
JOURNAL OF INHERITED METABOLIC DISEASE . 34(5): 1039-1044. Nº de citas: 77
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Velasco-Sánchez D, Aracil A, Montero-Sanchez R, Mas A, Jiménez L, O'Callaghan-Gordo M, Tondo M, Capdevila A, Blanch J, Artuch-Iriberri R and Pineda M.
Combined Therapy with Idebenone and Deferiprone in Patients with Friedreich's Ataxia
Cerebellum . 10(1): 1-8. Nº de citas: 126
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De Grandis E, Serrano M, Pérez-Dueñas B, Ormazabal-Herrero A, Montero-Sanchez R, Veneselli E, Pineda M, González V, Sanmartí F, Fons-Estupina C, Sans A, Cormand B, Puelles L, Alonso A, Campistol-Plana J, Artuch-Iriberri R and Garcia-Cazorla A.
Cerebrospinal fluid alterations of the serotonin product, 5-hydroxyindolacetic acid, in neurological disorders
JOURNAL OF INHERITED METABOLIC DISEASE . 33(6): 803-809. Nº de citas: 33
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Pineda M, Montero-Sanchez R, Aracil A, O'Callaghan-Gordo M, Mas A, Espinos C, Martinez-Rubio D, Palau F, Navas P, Briones P and Artuch-Iriberri R.
Coenzyme Q10-Responsive Ataxia: 2-Year-Treatment Follow-up
MOVEMENT DISORDERS . 25(9): 1262-1268. Nº de citas: 46
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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 citas: 21
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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 citas: 21
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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 citas: 23
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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 citas: 25