Publicaciones
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Tondo M, Casado-Rio M, O'Callaghan-Gordo M, Jordán-García I, Altimira-Queral L, Pérez-Dueñas B, García-Alix A, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.
Cerebrospinal Fluid Selenium Concentrations in Pediatric Patients with Neurologic Disorders
Journal of Pediatric Biochemistry . 5(1): 15-20. Nº de citas: 3
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Ortez-Gonzalez CI, Duarte ST, Ormazabal-Herrero A, Serrano M, Pérez A, Pons R, Pineda M, Yapici Z, Fernández-Alvarez E, Domingo-Jiménez R, De Castro P, Artuch-Iriberri R and Garcia-Cazorla A.
Cerebrospinal fluid synaptic proteins as useful biomarkers in tyrosine hydroxylase deficiency
MOLECULAR GENETICS AND METABOLISM . 114(1): 34-40. Nº de citas: 13
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Quijada-Fraile P, O'Callaghan-Gordo M, Martín-Hernández E, Montero-Sanchez R, Garcia-Cazorla A, de Aragón A, Muchart-Lopez J, Málaga I, Pardo R, García-Gonzalez P, Jou-Munoz C, Montoya J, Emperador S, Ruiz-Pesini E, Arenas J, Martin M, Ormazabal-Herrero A, Pineda M, García-Silva MT and Artuch-Iriberri R.
Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome
ORPHANET JOURNAL OF RARE DISEASES . 9: 217-217. Nº de citas: 32
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Yubero-Siles D, O'Callaghan-Gordo M, Montero-Sanchez R, Ormazabal-Herrero A, Armstrong-Moron J, Espinos C, Rodríguez-García MA, Jou-Munoz C, Castejon E, Aracil MA, Cascajo MV, Gavilan A, Briones P, Jimenez-Mallebrera C, Pineda M, Navas P and Artuch-Iriberri R.
Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency
BMC PEDIATRICS . 14: 284-284. Nº de citas: 15
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Casado-Rio M, Altimira-Queral L, Montero-Sanchez R, Castejón E, Nascimento-Osorio A, Pérez-Dueñas B, Ormazabal-Herrero A and Artuch-Iriberri R.
A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases
ANALYTICAL AND BIOANALYTICAL CHEMISTRY . 406(18): 4337-4343. Nº de citas: 11
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Casado-Rio M, Molero M, Sierra-March C, Garcia-Cazorla A, Ormazabal-Herrero A and Artuch-Iriberri R.
Analysis of cerebrospinal fluid ?-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection
Electrophoresis . 35(8): 1181-1187. Nº de citas: 11
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Molero M, Fernández-Ureña S, Jordán-García I, Serrano M, Ormazabal-Herrero A, Garcia-Cazorla A and Artuch-Iriberri R.
Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes
PLoS One . 8(12): . Nº de citas: 23
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Ortez-Gonzalez CI, Jou-Munoz C, Cortés-Saladelafont E, Moreno J, Pérez A, Ormazabal-Herrero A, Pérez-Cerdá C, Pérez B, Artuch-Iriberri R, Cusi V and Garcia-Cazorla A.
Infantile parkinsonism and gabaergic hypotransmission in a patient with pyruvate carboxylase deficiency
Gene . 532(2): 302-306. Nº de citas: 12
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Tondo M, Calpena E, Arriola G, Sanz P, Martorell-Sampol L, Ormazabal-Herrero A, Castejon E, Palacin M, Ugarte M, Espinos C, Perez B, Pérez-Dueñas B, Pérez-Cerda C and Artuch-Iriberri R.
Clinical, biochemical, molecular and therapeutic aspects of 2 new cases of 2-aminoadipic semialdehyde synthase deficiency
MOLECULAR GENETICS AND METABOLISM . 110(3): 231-236. Nº de citas: 12
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Duarte ST, Armstrong-Moron J, Roche-Martinez A, Ortez-Gonzalez CI, Pérez A, O'Callaghan-Gordo M, Pereira A, Sanmartí F, Ormazabal-Herrero A, Artuch-Iriberri R, Pineda M and Garcia-Cazorla A.
Abnormal Expression of Cerebrospinal Fluid Cation Chloride Cotransporters in Patients with Rett Syndrome
PLoS One . 8(7): . Nº de citas: 60