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Neonatal Screening for Inherited Metabolic Diseases in 2016.
Villoria JG, Pajares S, López RM, Marin JL, Ribes A. Villoria JG, et al. Among authors: marin jl. 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.
[Newborn screening for metabolic disorders in Spain and worldwide].
Castiñeras DE, Couce ML, Marin JL, González-Lamuño D, Rocha H. Castiñeras DE, et al. Among authors: marin jl. An Pediatr (Engl Ed). 2019 Aug;91(2):128.e1-128.e14. doi: 10.1016/j.anpedi.2019.05.007. Epub 2019 Jun 21. An Pediatr (Engl Ed). 2019. PMID: 31235277 Free article. Spanish.
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: marin jl. 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: marin jl. 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.
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: marin jl. 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.
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: marin jl. 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.
Discrimination of Borderline Personality Disorder (BPD) and Attention-Deficit/Hyperactivity Disorder (ADHD) in adolescents: Spanish version of the Borderline Personality Features Scale for Children-11 Self-Report (BPFSC-11) Preliminary results.
Calvo N, Marin JL, Vidal R, Sharp C, Duque JD, Ramos-Quiroga JA, Ferrer M. Calvo N, et al. Among authors: marin jl. Borderline Personal Disord Emot Dysregul. 2023 May 16;10(1):15. doi: 10.1186/s40479-023-00223-2. Borderline Personal Disord Emot Dysregul. 2023. PMID: 37189168 Free PMC article.
61 results