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Clinical Biochemistry|October 20, 2012
Improvement of the cystine measurement in granulocytes by liquid chromatograhy-tandem mass spectrometryJudit García-Villoria, Jose Maria Hernández-Pérez, Angela Arias, et al.
Molecular Genetics and Metabolism|January 15, 2013
Role of creatine as biomarker of mitochondrial diseasesSonia Pajares, Angela Arias, Judit García-Villoria, et al.
Pediatrics|December 13, 2016
Lysine Restriction and Pyridoxal Phosphate Administration in a NADK2 PatientFrederic Tort, Olatz Ugarteburu, Maria Angeles Torres, et al.
JIMD Reports|February 23, 2013
Quantitative Analysis of mtDNA Content in Formalin-Fixed Paraffin-Embedded Muscle TissueAida Font, Frederic Tort, Aleix Navarro-Sastre, et al.
Clinical Biochemistry|July 30, 2021
External quality assessment in the absence of proficiency testing: A split-sample testing program experienceLeonor Guiñón, Judit García-Villoria, Antonia Ribes, et al.
The Journal of Biological Chemistry|April 7, 2010
Extended ischemia prevents HIF1alpha degradation at reoxygenation by impairing prolyl-hydroxylation: role of Krebs cycle metabolitesAnna Serra-Pérez, Anna M Planas, Analía Núñez-O'Mara, et al.
Journal of Clinical Medicine|April 1, 2020
Physiopathological Bases of the Disease Caused by HACE1 Mutations: Alterations in Autophagy, Mitophagy and Oxidative Stress ResponseOlatz Ugarteburu, Marta Sánchez-Vilés, Julio Ramos, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|July 12, 2020
Analytical performance specifications based on the state-of-the-art for the newborn screeningLeonor Guiñón, Anna Soler, Angel Molina, et al.
International Journal of Molecular Sciences|August 12, 2023
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System AlterationsLuisa Arrabal, Gerard Muñoz-Pujol, Inmaculada Medina Martínez, et al.
Clinical Biochemistry|January 17, 2009
Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF)Ester Quintana, Aleix Navarro-Sastre, José María Hernández-Pérez, et al.
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