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Page 1
Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease.
de Las Heras J, Almohalla C, Blasco-Alonso J, Bourbon M, Couce ML, de Castro López MJ, García Jiménez MC, Gil Ortega D, González-Diéguez L, Meavilla S, Moreno-Álvarez A, Pastor-Rosado J, Sánchez-Pintos P, Serrano-Gonzalo I, López E, Valdivielso P, Yahyaoui R, Quintero J. de Las Heras J, et al. Among authors: yahyaoui r. Nutrients. 2024 Dec 13;16(24):4309. doi: 10.3390/nu16244309. Nutrients. 2024. PMID: 39770929 Free PMC article. Review.
Metabolic Serendipities of Expanded Newborn Screening.
Yahyaoui R, Blasco-Alonso J, Gonzalo-Marín M, Benito C, Serrano-Nieto J, González-Gallego I, Ruiz-Sala P, Pérez B, González-Lamuño D. Yahyaoui R, et al. Genes (Basel). 2020 Aug 29;11(9):1018. doi: 10.3390/genes11091018. Genes (Basel). 2020. PMID: 32872442 Free PMC article.
Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders.
Andrade F, Vitoria I, Martín Hernández E, Pintos-Morell G, Correcher P, Puig-Piña R, Quijada-Fraile P, Peña-Quintana L, Marquez AM, Villate O, García Silva MT, de Las Heras J, Ceberio L, Rodrigues E, Almeida Campos T, Yahyaoui R, Blasco J, Vives-Piñera I, Gil D, Del Toro M, Ruiz-Pons M, Cañedo E, Barba Romero MA, García-Jiménez MC, Aldámiz-Echevarría L. Andrade F, et al. Among authors: yahyaoui r. J Pharm Biomed Anal. 2019 Nov 30;176:112798. doi: 10.1016/j.jpba.2019.112798. Epub 2019 Aug 1. J Pharm Biomed Anal. 2019. PMID: 31394303
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: yahyaoui r. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Initial Evaluation of Prospective and Parallel Assessments of Cystic Fibrosis Newborn Screening Protocols in Eastern Andalusia: IRT/IRT versus IRT/PAP/IRT.
Sadik I, Pérez de Algaba I, Jiménez R, Benito C, Blasco-Alonso J, Caro P, Navas-López VM, Pérez-Frías J, Pérez E, Serrano J, Yahyaoui R. Sadik I, et al. Among authors: yahyaoui r. Int J Neonatal Screen. 2019 Sep 3;5(3):32. doi: 10.3390/ijns5030032. eCollection 2019 Sep. Int J Neonatal Screen. 2019. PMID: 33072991 Free PMC article.
Four Years' Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers.
Merinero B, Alcaide P, Martín-Hernández E, Morais A, García-Silva MT, Quijada-Fraile P, Pedrón-Giner C, Dulin E, Yahyaoui R, Egea JM, Belanger-Quintana A, Blasco-Alonso J, Fernandez Ruano ML, Besga B, Ferrer-López I, Leal F, Ugarte M, Ruiz-Sala P, Pérez B, Pérez-Cerdá C. Merinero B, et al. Among authors: yahyaoui r. JIMD Rep. 2018;39:63-74. doi: 10.1007/8904_2017_40. Epub 2017 Jul 29. JIMD Rep. 2018. PMID: 28755359 Free PMC article.
Infantile sialidosis: natural history in a preterm infant with two new pathogenic mutations and new ocular findings.
Pérez-Cabeza MI, Borrás F, Moreno-Medinilla EE, Bardán-Rebollar D, Ferrer-López I, Rodríguez-García E, Jiménez-Machado R, Castro-Vega I, Benito C, Escudero J, Yahyaoui R. Pérez-Cabeza MI, et al. Among authors: yahyaoui r. J AAPOS. 2019 Apr;23(2):102-104. doi: 10.1016/j.jaapos.2018.08.008. Epub 2018 Nov 13. J AAPOS. 2019. PMID: 30445145
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Soriano-Sexto A, Gallego D, Leal F, Castejón-Fernández N, Navarrete R, Alcaide P, Couce ML, Martín-Hernández E, Quijada-Fraile P, Peña-Quintana L, Yahyaoui R, Correcher P, Ugarte M, Rodríguez-Pombo P, Pérez B. Soriano-Sexto A, et al. Among authors: yahyaoui r. Int J Mol Sci. 2022 Oct 25;23(21):12850. doi: 10.3390/ijms232112850. Int J Mol Sci. 2022. PMID: 36361642 Free PMC article.
39 results