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Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.
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,…
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Marquardt G, et al. Among authors: tomashitis k.
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.
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Utilization of blood spot testing for metabolic-genetic disorders in Honduras: is it time for newborn screening?
Slaughter JL, Espinoza L, Molinero I, Wood TC, Duron C, Flores A, Porter R, Tomashitis K, Holden KR.
Slaughter JL, et al. Among authors: tomashitis k.
J Child Neurol. 2010 Mar;25(3):306-11. doi: 10.1177/0883073809339059. Epub 2009 Oct 21.
J Child Neurol. 2010.
PMID: 19850562
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