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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: fernandez r. 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.
An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations.
Pajares S, López RM, Gort L, Argudo-Ramírez A, Marín JL, González de Aledo-Castillo JM, García-Villoria J, Arranz JA, Del Toro M, Tort F, Ugarteburu O, Casellas MD, Fernández R, Ribes A. Pajares S, et al. Among authors: fernandez r. Mol Genet Metab Rep. 2020 Jan 2;22:100553. doi: 10.1016/j.ymgmr.2019.100553. eCollection 2020 Mar. Mol Genet Metab Rep. 2020. PMID: 31908952 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: fernandez r. 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.
Lysinuric Protein Intolerance and Its Nutritional and Multisystemic Challenges in Pregnancy: A Case Report and Literature Review.
Pané A, Milad C, Santana-Domínguez M, Baños N, Borras-Novell C, Espinosa G, Magnano L, Nomdedeu M, Moreno-Lozano PJ, Cofan F, Placeres M, Fernández RM, García-Villoria J, Garrabou G, Vinagre I, Tanner LM, Montserrat-Carbonell C, Forga-Visa MT. Pané A, et al. J Clin Med. 2023 Oct 8;12(19):6405. doi: 10.3390/jcm12196405. J Clin Med. 2023. PMID: 37835050 Free PMC article. Review.
Comparative Effects of Acetate- and Citrate-Based Dialysates on Dialysis Dose and Protein-Bound Uremic Toxins in Hemodiafiltration Patients: Exploring the Impact of Calcium and Magnesium Concentrations.
Rodríguez-Espinosa D, Cuadrado-Payán E, Rico N, Torra M, Fernández RM, Gómez M, Morantes L, Casals G, Rodriguez-Garcia M, Maduell F, Broseta JJ. Rodríguez-Espinosa D, et al. Toxins (Basel). 2024 Oct 1;16(10):426. doi: 10.3390/toxins16100426. Toxins (Basel). 2024. PMID: 39453202 Free PMC article.
2,780 results