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Ormazabal, Aida
114  results:
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1

L-serine treatment in patients with GRIN-related encephalop..:

Juliá-Palacios, Natalia ; Olivella, Mireia ; Sigatullina Bondarenko, Mariya...
Brain.  147 (2024)  5 - p. 1653-1666 , 2024
Link: https://doi.org/10.1093/..
 
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2

Fibroblast phenylalanine concentration as a surrogate bioma..:

Oliva, Clara ; Arias, Angela ; Ruiz, Montserrat...
Journal of Chromatography B.  1226 (2023)  - p. 123787 , 2023
Link: https://doi.org/10.1016/..
 
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3

Correction to: implementation of second-tier tests in newbo..:

Pajares, Sonia ; Arranz, Jose Antonio ; Ormazabal, Aida...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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4

Effect of Special Low-Protein Foods Consumption in the Diet..:

Garcia-Arenas, Dolores ; Barrau-Martinez, Blanca ; Gonzalez-Rodriguez, Arnau...
Nutrients.  15 (2023)  15 - p. 3475 , 2023
Link: https://doi.org/10.3390/..
 
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5

BCKDK deficiency: a treatable neurodevelopmental disease am..:

Tangeraas, Trine ; Constante, Juliana R ; Backe, Paul Hoff...
Brain.  146 (2023)  7 - p. 3003-3013 , 2023
Link: https://doi.org/10.1093/..
 
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6

Biomedical point-of-care microanalyzer for potentiometric d..:

Calvo-López, Antonio ; Rebollo-Calderon, Beatriz ; Ormazábal, Aida...
Analytica Chimica Acta.  1205 (2022)  - p. 339782 , 2022
Link: https://doi.org/10.1016/..
 
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7

Pediatric Gaucher disease with intermediate type 2–3 phenot..:

Darling, Alejandra ; Irún, Pilar ; Giraldo, Pilar...
Parkinsonism & Related Disorders.  91 (2021)  - p. 19-22 , 2021
Link: https://doi.org/10.1016/..
 
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8

Kynurenine pathway in post-mortem prefrontal cortex and cer..:

Afia, Amira Ben ; Vila, Èlia ; MacDowell, Karina S....
Journal of Neuroinflammation.  18 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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9

Implementation of second-tier tests in newborn screening fo..:

Pajares, Sonia ; Arranz, Jose Antonio ; Ormazabal, Aida...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

Impairment of the mitochondrial one-carbon metabolism enzym..:

García-Cazorla, Àngels ; Verdura, Edgard ; Juliá-Palacios, Natalia...
Acta Neuropathologica.  140 (2020)  6 - p. 971-975 , 2020
Link: https://doi.org/10.1007/..
 
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11

Cerebrospinal fluid neopterin as a biomarker of neuroinflam..:

Molero-Luis, Marta ; Casas-Alba, Didac ; Orellana, Gabriela...
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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12

Disrupted Mitochondrial and Metabolic Plasticity Underlie C..:

Juárez-Flores, Diana Luz ; Ezquerra, Mario ; Gonzàlez-Casacuberta, ïngrid...
Antioxidants.  9 (2020)  11 - p. 1063 , 2020
Link: https://doi.org/10.3390/..
 
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13

Effect of blood contamination of cerebrospinal fluid on ami..:

Batllori, Marta ; Casado, Mercedes ; Sierra, Cristina...
Fluids and Barriers of the CNS.  16 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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14

Inducible Slc7a7 Knockout Mouse Model Recapitulates Lysinur..:

Bodoy, Susanna ; Sotillo, Fernando ; Espino-Guarch, Meritxell...
International Journal of Molecular Sciences.  20 (2019)  21 - p. 5294 , 2019
Link: https://doi.org/10.3390/..
 
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15

Discovery of Biomarker Panels for Neural Dysfunction in Inb..:

Castells, Alba-Aina ; Gueraldi, Daniela ; Balada, Rafel...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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