Publications
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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. Number of citations: 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. Number of citations: 11
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Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes
JIMD Reports . 7: 123-128. Number of citations: 14
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Sanchez-Masian DF, Artuch-Iriberri R, Mascort J, Jakobs C, Salomons G, Zamora A, Casado-Rio M, Fernandez M, Recio A and Lujan A.
L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers
JOURNAL OF THE AMERICAN ANIMAL HOSPITAL ASSOCIATION . 48(5): 366-371. Number of citations: 16
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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. Number of citations: 23
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Ortez-Gonzalez CI, Villar C, Fons-Estupina C, Duarte ST, Pérez A, García-Villoria J, Ribes A, Ormazabal-Herrero A, Casado-Rio M, Campistol-Plana J, Vilaseca MA and Garcia-Cazorla A.
Undetectable Levels of CSF Amyloid-ß Peptide in a Patient with 17ß-Hydroxysteroid Dehydrogenase Deficiency
JOURNAL OF ALZHEIMERS DISEASE . 27(2): 253-257. Number of citations: 6
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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. Number of citations: 21
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Cortés-Saladelafont E, Molero M, Duarte S, Casado-Rio M, Sierra-March C, O'Callaghan-Gordo M, Sanmarti FX, Fons-Estupina C, González V, Pérez-Dueñas B, Poo P, Ramos F, García-Alix A, Armstrong-Moron J, Artuch-Iriberri R and Garcia-Cazorla A.
Supplementation with pyridoxal phosphate may be useful in diverse neuropediatric disorders.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . : .
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Rodriguez H, Ormazabal-Herrero A, Casado-Rio M, Arias AY, Oliva-Mussara C, Barranco-Altirriba M, Ricard Casadevall Llandrich, Francisco García Cuyás, Nascimento-Osorio A, Ortez-Gonzalez CI, Natera-de Benito D, Armangue-Salvador T, O'Callaghan-Gordo M, Julià-Palacios NA, Darling A, Ortigoza-Escobar JD, Fons-Estupina C, Garcia-Cazorla A, Perera A and Artuch-Iriberri R.
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication.
CLINICAL CHEMISTRY . : .