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Page 1
Leigh syndrome associated with TRMU gene mutations.
Sala-Coromina J, Miguel LD, de Las Heras J, Lasa-Aranzasti A, Garcia-Arumi E, Carreño L, Arranz JA, Carnicer C, Unceta-Suárez M, Sanchez-Montañez A, Gort L, Tort F, Del Toro M. Sala-Coromina J, et al. Among authors: carnicer c. Mol Genet Metab Rep. 2020 Dec 15;26:100690. doi: 10.1016/j.ymgmr.2020.100690. eCollection 2021 Mar. Mol Genet Metab Rep. 2020. PMID: 33365252 Free PMC article.
Mesangial C4d Deposits in Early IgA Nephropathy.
Segarra A, Romero K, Agraz I, Ramos N, Madrid A, Carnicer C, Jatem E, Vilalta R, Lara LE, Ostos E, Valtierra N, Jaramillo J, Arredondo KV, Ariceta G, Martinez C. Segarra A, et al. Among authors: carnicer c. Clin J Am Soc Nephrol. 2018 Feb 7;13(2):258-264. doi: 10.2215/CJN.02530317. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2018. PMID: 29146701 Free PMC article.
Multicentric Standardization of Protocols for the Diagnosis of Human Mitochondrial Respiratory Chain Defects.
Bujan N, Morén C, García-García FJ, Blázquez A, Carnicer C, Cortés AB, González C, López-Gallardo E, Lozano E, Moliner S, Gort L, Tobías E, Delmiro A, Martin MÁ, Fernández-Moreno MÁ, Ruiz-Pesini E, Garcia-Arumí E, Rodríguez-Aguilera JC, Garrabou G. Bujan N, et al. Among authors: carnicer c. Antioxidants (Basel). 2022 Apr 8;11(4):741. doi: 10.3390/antiox11040741. Antioxidants (Basel). 2022. PMID: 35453428 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: carnicer c. 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.
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: carnicer c. 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.