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Page 1
Coenzyme Q10 and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type III.
Yubero D, Montero R, O'Callaghan M, Pineda M, Meavilla S, Delgadillo V, Sierra C, Altimira L, Navas P, Pope S, Oppenheim M, Neergheen V, Ghosh A, Mills P, Clayton P, Footitt E, Cleary M, Hargreaves I, Jones SA, Heales S, Artuch R. Yubero D, et al. Among authors: meavilla s. JIMD Rep. 2016;25:1-7. doi: 10.1007/8904_2015_421. Epub 2015 Jul 24. JIMD Rep. 2016. PMID: 26205433 Free PMC article.
Assessment of plasma ammonia and glutamine concentrations in urea cycle disorders.
Serrano M, Ormazábal A, Vilaseca MA, Lambruschini N, Garcia-Romero R, Meavilla S, Perez-Dueñas B, Pineda M, Garcia-Cazorla A, Campistol J, Artuch R. Serrano M, et al. Among authors: meavilla s. Clin Biochem. 2011 Jun;44(8-9):742-4. doi: 10.1016/j.clinbiochem.2011.03.136. Epub 2011 Apr 8. Clin Biochem. 2011. PMID: 21497589
Plasma coenzyme Q10 status is impaired in selected genetic conditions.
Montero R, Yubero D, Salgado MC, González MJ, Campistol J, O'Callaghan MDM, Pineda M, Delgadillo V, Maynou J, Fernandez G, Montoya J, Ruiz-Pesini E, Meavilla S, Neergheen V, García-Cazorla A, Navas P, Hargreaves I, Artuch R. Montero R, et al. Among authors: meavilla s. Sci Rep. 2019 Jan 28;9(1):793. doi: 10.1038/s41598-018-37542-2. Sci Rep. 2019. PMID: 30692599 Free PMC article.
Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism.
Castells AA, Gueraldi D, Balada R, Tristán-Noguero A, Cortès-Saladelafont E, Ramos F, Meavilla S, De Los Santos M, Garcia-Volpe C, Colomé R, Couce ML, Sierra C, Ormazábal A, Batllori M, Artuch R, Armstrong J, Alcántara S, Garcia-Cazorla À. Castells AA, et al. Among authors: meavilla s. Sci Rep. 2019 Jun 24;9(1):9128. doi: 10.1038/s41598-019-45674-2. Sci Rep. 2019. PMID: 31235756 Free PMC article.
Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia.
Minguez B, de Los Santos M, Garcia-Volpe C, Molera C, Paredes-Fuentes AJ, Oliva C, Arias A, Rodriguez-Gonzalez H, Yubero D, Tondo M, Santos-Ocaña C, Meavilla S, Artuch R. Minguez B, et al. Among authors: meavilla s. Antioxidants (Basel). 2024 Aug 9;13(8):966. doi: 10.3390/antiox13080966. Antioxidants (Basel). 2024. PMID: 39199213 Free PMC article.
Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S, Arranz JA, Ormazabal A, Del Toro M, García-Cazorla Á, Navarro-Sastre A, López RM, Meavilla SM, de Los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch R, Tort F, Gort L, Fernández R, García-Villoria J, Ribes A. Pajares S, et al. Among authors: meavilla sm. Orphanet J Rare Dis. 2021 Apr 30;16(1):195. doi: 10.1186/s13023-021-01784-7. Orphanet J Rare Dis. 2021. PMID: 33931066 Free PMC article.
Correction to: implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.
Pajares S, Arranz JA, Ormazabal A, Toro MD, García-Cazorla Á, Navarro-Sastre A, López RM, Meavilla SM, de Los Santos MM, García-Volpe C, de Aledo-Castillo JMG, Argudo A, Marín JL, Carnicer C, Artuch R, Tort F, Gort L, Fernández R, García-Villoria J, Ribes A. Pajares S, et al. Among authors: meavilla sm. Orphanet J Rare Dis. 2023 Jul 13;18(1):188. doi: 10.1186/s13023-023-02793-4. Orphanet J Rare Dis. 2023. PMID: 37443087 Free PMC article. No abstract available.
Severity of GNAO1-Related Disorder Correlates with Changes in G-Protein Function.
Domínguez-Carral J, Ludlam WG, Junyent Segarra M, Fornaguera Marti M, Balsells S, Muchart J, Čokolić Petrović D, Espinoza I, Ortigoza-Escobar JD, Martemyanov KA; GNAO1-Study Group. Domínguez-Carral J, et al. Ann Neurol. 2023 Nov;94(5):987-1004. doi: 10.1002/ana.26758. Epub 2023 Aug 31. Ann Neurol. 2023. PMID: 37548038 Free PMC article.
20 results