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Page 1
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
McHugh D, Cameron CA, Abdenur JE, Abdulrahman M, Adair O, Al Nuaimi SA, Åhlman H, Allen JJ, Antonozzi I, Archer S, Au S, Auray-Blais C, Baker M, Bamforth F, Beckmann K, Pino GB, Berberich SL, Binard R, Boemer F, Bonham J, Breen NN, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Bryant SC, Caggana M, Caldwell SG, Camilot M, Campbell C, Carducci C, Cariappa R, Carlisle C, Caruso U, Cassanello M, Castilla AM, Ramos DE, Chakraborty P, Chandrasekar R, Ramos AC, Cheillan D, Chien YH, Childs TA, Chrastina P, Sica YC, de Juan JA, Colandre ME, Espinoza VC, Corso G, Currier R, Cyr D, Czuczy N, D'Apolito O, Davis T, de Sain-Van der Velden MG, Delgado Pecellin C, Di Gangi IM, Di Stefano CM, Dotsikas Y, Downing M, Downs SM, Dy B, Dymerski M, Rueda I, Elvers B, Eaton R, Eckerd BM, El Mougy F, Eroh S, Espada M, Evans C, Fawbush S, Fijolek KF, Fisher L, Franzson L, Frazier DM, Garcia LR, Bermejo MS, Gavrilov D, Gerace R, Giordano G, Irazabal YG, Greed LC, Grier R, Grycki E, Gu X, Gulamali-Majid F, Hagar AF, Han L, Hannon WH, Haslip C, Hassan FA, He M, Hietala A, Himstedt L, Hoffman GL, Hoffman W, Hoggatt P, Hopkins PV, Hougaard DM, Hughes K, Hunt PR, Hwu WL, Hynes J,… See abstract for full author list ➔ McHugh D, et al. Among authors: delgado pecellin c. Genet Med. 2011 Mar;13(3):230-54. doi: 10.1097/GIM.0b013e31820d5e67. Genet Med. 2011. PMID: 21325949 Free 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 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.
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.
[Combined methylmalonic acidemia and homocystinuria; a case report].
Jiménez Varo I, Bueno Delgado M, Dios Fuentes E, Delgado Pecellin C, González Meneses A, Soto Moreno A, Venegas Moreno E. Jiménez Varo I, et al. Among authors: delgado pecellin c. Nutr Hosp. 2015 Apr 1;31(4):1885-8. doi: 10.3305/nh.2015.31.4.8544. Nutr Hosp. 2015. PMID: 25795986 Free article. Spanish.
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.
[Anhydrotic ectodermal dysplasia associated to mannose-binding lectin deficiency].
Delgado Pecellín I, Castillo Reguera Y, Delgado Pecellín C, Bueno Delgado MA, González Valencia JP, Obando Santaella I, Neth O. Delgado Pecellín I, et al. Among authors: delgado pecellin c. An Pediatr (Barc). 2012 Jul;77(1):43-6. doi: 10.1016/j.anpedi.2012.02.010. Epub 2012 Apr 1. An Pediatr (Barc). 2012. PMID: 22472699 Free PMC article. Spanish.
[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.
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