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Page 1
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Keller R, et al. Among authors: lopez rm. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Neonatal Screening for Inherited Metabolic Diseases in 2016.
Villoria JG, Pajares S, López RM, Marin JL, Ribes A. Villoria JG, et al. Among authors: lopez rm. Semin Pediatr Neurol. 2016 Nov;23(4):257-272. doi: 10.1016/j.spen.2016.11.001. Epub 2016 Nov 16. Semin Pediatr Neurol. 2016. PMID: 28284388 Review.
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: lopez rm. 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.
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: lopez rm. 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: lopez rm. 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.
Inter-rater reliability assessment for the new-born screening quality assurance.
Guiñón L, Soler A, López RM, Pajares S, de Aledo JMG, Argudo-Ramírez A, Marín JL, García-Villoria J, Sahuquillo Á, Alvarez L. Guiñón L, et al. Among authors: lopez rm. Biochem Med (Zagreb). 2022 Oct 1;32(3):030901. doi: 10.11613/BM.2022.030901. Epub 2022 Aug 5. Biochem Med (Zagreb). 2022. PMID: 35966259 Free PMC article.
155 results