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Page 1
[Beginnings, evolution and current situation of the Newborn Screening Programs in Spain.].
Marín Soria JL, González de Aledo Castillo JM, Argudo Ramírez A, López Galera RM, Pajares García S, Ribes Rubió A, García Villoria J, Yahyaoui Macías R, Álvarez Ríos AI, Melguizo Madrid E, González Irazabal Y, Hernández de Abajo G, Prieto García B, Cardo González L, Martínez Morillo E, Robles Bauza J, Bauçà Rosselló JM, Pérez Esteban G, Díaz-Flores Estevez F, Pérez Mangas E, Cañadas Garzó V, Muñoz Boyero AC, Redondo Cardeña PA, Bueno Llarena MJ, Sánchez Alarcon J, Castiñeiras Ramos D, Cocho de Juan JÁ, Colón Mejeras C, Blanco Soto P, Cambra Conejero A, Fernández Ruano ML, Ortiz Temprado A, Egea Mellado JM, González Gallego I, Juan Fita MJ, Espada Saenz-Torre M, Rausell Felix D, Marcos Tomás JV, Ruiz Aja S, Delgado Pecellín C, Bóveda Fontán MD. Marín Soria JL, et al. Among authors: delgado pecellin c. Rev Esp Salud Publica. 2021 Feb 23;95:e202102041. Rev Esp Salud Publica. 2021. PMID: 33619242 Free article. Spanish.
Results of the Andalusian Cystic Fibrosis Neonatal Screening Program, 5 Years After Implementation.
Delgado Pecellín I, Pérez Ruiz E, Álvarez Ríos AI, Delgado Pecellín C, Yahyaoui Macías R, Carrasco Hernández L, Marcos Luque I, Caro Aguilera P, Moreno Valera MJ, Quintana Gallego ME. Delgado Pecellín I, et al. Among authors: delgado pecellin c. Arch Bronconeumol (Engl Ed). 2018 Nov;54(11):551-558. doi: 10.1016/j.arbres.2018.03.013. Epub 2018 Jul 6. Arch Bronconeumol (Engl Ed). 2018. PMID: 29983195 Free article. English, Spanish.
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: delgado pecellin c. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program.
Navarrete R, Leal F, Vega AI, Morais-López A, Garcia-Silva MT, Martín-Hernández E, Quijada-Fraile P, Bergua A, Vives I, García-Jiménez I, Yahyaoui R, Pedrón-Giner C, Belanger-Quintana A, Stanescu S, Cañedo E, García-Campos O, Bueno-Delgado M, Delgado-Pecellín C, Vitoria I, Rausell MD, Balmaseda E, Couce ML, Desviat LR, Merinero B, Rodríguez-Pombo P, Ugarte M, Pérez-Cerdá C, Pérez B. Navarrete R, et al. Among authors: delgado pecellin c. Eur J Hum Genet. 2019 Apr;27(4):556-562. doi: 10.1038/s41431-018-0330-0. Epub 2019 Jan 9. Eur J Hum Genet. 2019. PMID: 30626930 Free PMC article.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Marquardt G, Currier R, McHugh DM, Gavrilov D, Magera MJ, Matern D, Oglesbee D, Raymond K, Rinaldo P, Smith EH, Tortorelli S, Turgeon CT, Lorey F, Wilcken B, Wiley V, Greed LC, Lewis B, Boemer F, Schoos R, Marie S, Vincent MF, Sica YC, Domingos MT, Al-Thihli K, Sinclair G, Al-Dirbashi OY, Chakraborty P, Dymerski M, Porter C, Manning A, Seashore MR, Quesada J, Reuben A, Chrastina P, Hornik P, Atef Mandour I, Atty Sharaf SA, Bodamer O, Dy B, Torres J, Zori R, Cheillan D, Vianey-Saban C, Ludvigson D, Stembridge A, Bonham J, Downing M, Dotsikas Y, Loukas YL, Papakonstantinou V, Zacharioudakis GS, Baráth Á, Karg E, Franzson L, Jonsson JJ, Breen NN, Lesko BG, Berberich SL, Turner K, Ruoppolo M, Scolamiero E, Antonozzi I, Carducci C, Caruso U, Cassanello M, la Marca G, Pasquini E, Di Gangi IM, Giordano G, Camilot M, Teofoli F, Manos SM, Peterson CK, Mayfield Gibson SK, Sevier DW, Lee SY, Park HD, Khneisser I, Browning P, Gulamali-Majid F, Watson MS, Eaton RB, Sahai I, Ruiz C, Torres R, Seeterlin MA, Stanley EL, Hietala A, McCann M, Campbell C, Hopkins PV, de Sain-Van der Velden MG, Elvers B, Morrissey MA, Sunny S, Knoll D, Webster D, Frazier DM, McClure JD, Sesser DE, Willis SA, Rocha H,… See abstract for full author list ➔ Marquardt G, et al. Among authors: delgado pecellin c. Genet Med. 2012 Jul;14(7):648-55. doi: 10.1038/gim.2012.2. Epub 2012 Feb 16. Genet Med. 2012. PMID: 22766634 Free article.
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency.
Couce ML, Sánchez-Pintos P, Diogo L, Leão-Teles E, Martins E, Santos H, Bueno MA, Delgado-Pecellín C, Castiñeiras DE, Cocho JA, García-Villoria J, Ribes A, Fraga JM, Rocha H. Couce ML, et al. Among authors: delgado pecellin c. Orphanet J Rare Dis. 2013 Jul 10;8:102. doi: 10.1186/1750-1172-8-102. Orphanet J Rare Dis. 2013. PMID: 23842438 Free PMC article.
[A first pilot study on the neonatal screening of primary immunodeficiencies in Spain: TRECS and KRECS identify severe T- and B-cell lymphopenia].
Olbrich P, de Felipe B, Delgado-Pecellin C, Rodero R, Rojas P, Aguayo J, Marquez J, Casanovas J, Sánchez B, Lucena JM, Ybot-Gonzalez P, Borte S, Neth O. Olbrich P, et al. Among authors: delgado pecellin c. An Pediatr (Barc). 2014 Nov;81(5):310-7. doi: 10.1016/j.anpedi.2014.08.002. Epub 2014 Sep 30. An Pediatr (Barc). 2014. PMID: 25278007 Free article. Spanish.
23 results