Publications
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Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.
Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
ACTA NEUROPATHOLOGICA . 140(6): 971-975. Number of citations: 21
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Juárez-Flores DL, Ezquerra M, Gonzàlez-Casacuberta Ï, Ormazabal-Herrero A, Morén C, Tolosa E, Fucho R, Guitart-Mampel M, Casado-Rio M, Valldeoriola F, de la Torre-Lara J, Muñoz E, Tobías E, Compta Y, García-García FJ, García-Ruiz C, Fernandez-Checa JC, Martí MJ, Grau JM, Cardellach F, Artuch-Iriberri R, Fernández-Santiago R and Garrabou G.
Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus
ANTIOXIDANTS . 9(11): . Number of citations: 10
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Molero M, Casas-Alba D, Orellana G, Ormazabal-Herrero A, Sierra-March C, Oliva C, Valls-Lafon A, Velasco J, Launes-Montana C, Cuadras-Palleja D, Pérez-Dueñas B, Jordán-García I, Cambra-Lasaosa FJ, Ortigoza-Escobar JD, Munoz-Almagro C, Garcia-Cazorla A, Armangue-Salvador T and Artuch-Iriberri R.
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases
SCIENTIFIC REPORTS . 10(1): 18291-18291. Number of citations: 31
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Batllori-Tragant M, Casado-Rio M, Sierra-March C, Salgado MDC, Marti-Sanchez L, Maynou-Fernández J, Fernandez-Isern G, Garcia-Cazorla A, Ormazabal-Herrero A, Molero M and Artuch-Iriberri R.
Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins
Fluids and Barriers of the CNS . 16(1): 34-34. Number of citations: 9
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Bodoy S, Sotillo F, Espino-Guarch M, Sperandeo MP, Ormazabal-Herrero A, Zorzano A, Sebastio G, Artuch-Iriberri R and Palacín M.
Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinuric Protein Intolerance Disease
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 20(21): . Number of citations: 16
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Gassió-Subirachs R, González MJ, Sans-Capdevila O, Artuch-Iriberri R, Sierra-March C, Ormazabal-Herrero A, Cuadras-Palleja D and Campistol-Plana J.
Prevalence of sleep disorders in early-treated phenylketonuric children and adolescents. Correlation with dopamine and serotonin status
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 23(5): 685-691. Number of citations: 5
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Castells AA, Gueraldi D, Balada R, Tristan-Noguero A, Cortés-Saladelafont E, Ramos F, Meavilla-Olivas SM, De Los Santos M, García-Volpe C, Colomé-Roura R, Couce ML, Sierra-March C, Ormazabal-Herrero A, Batllori-Tragant M, Artuch-Iriberri R, Armstrong-Moron J, Alcántara S and Garcia-Cazorla A.
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism
SCIENTIFIC REPORTS . 9: 9128-9128. Number of citations: 4
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Batllori-Tragant M, Molero M, Ormazabal-Herrero A, Montero-Sanchez R, Sierra-March C, Ribes A, Montoya C, Ruiz-Pesini E, O'Callaghan-Gordo M, Pias L, Nascimento-Osorio A, Palau F, Armstrong-Moron J, Yubero-Siles D, Ortigoza-Escobar JD, Garcia-Cazorla A and Artuch-Iriberri R.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience
JOURNAL OF INHERITED METABOLIC DISEASE . 41(6): 1147-1158. Number of citations: 10
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González MJ, Rebollo M, Ripollés P, Gassió-Subirachs R, Ormazabal-Herrero A, Sierra-March C, Colomé-Roura R, Artuch-Iriberri R and Campistol-Plana J.
White matter microstructural damage in early treated phenylketonuric patients
ORPHANET JOURNAL OF RARE DISEASES . 13: 188-188. Number of citations: 18
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Casado-Rio M, Sierra-March C, Batllori-Tragant M, Artuch-Iriberri R and Ormazabal-Herrero A.
A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry
Metabolomics . 14(6): 76-76. Number of citations: 33