作者
David McHugh, Cynthia A Cameron, Jose E Abdenur, Mahera Abdulrahman, Ona Adair, Shahira Ahmed Al Nuaimi, Henrik Åhlman, Jennifer J Allen, Italo Antonozzi, Shaina Archer, Sylvia Au, Christiane Auray-Blais, Mei Baker, Fiona Bamforth, Kinga Beckmann, Gessi Bentz Pino, Stanton L Berberich, Robert Binard, François Boemer, Jim Bonham, Nancy N Breen, Sandra C Bryant, Michele Caggana, S Graham Caldwell, Marta Camilot, Carlene Campbell, Claudia Carducci, Rohit Cariappa, Clover Carlisle, Ubaldo Caruso, Michela Cassanello, Ane Miren Castilla, Daisy E Castiñeiras Ramos, Pranesh Chakraborty, Ram Chandrasekar, Alfredo Chardon Ramos, David Cheillan, Yin-Hsiu Chien, Thomas A Childs, Petr Chrastina, Yuri Cleverthon Sica, Jose Angel Cocho De Juan, Maria Elena Colandre, Veronica Cornejo Espinoza, Gaetano Corso, Robert Currier, Denis Cyr, Noemi Czuczy, Oceania D'Apolito, Tim Davis, Monique de Sain-Van der Velden, Carmen Delgado Pecellin, Iole Maria Di Gangi, Cristina Maria Di Stefano, Yannis Dotsikas, Melanie Downing, Stephen M Downs, Bonifacio Dy, Mark Dymerski, Inmaculada Rueda, Bert Elvers, Roger Eaton, Barbara M Eckerd, Fatma El Mougy, Sarah Eroh, Mercedes Espada, Catherine Evans, Sandy Fawbush, Kristel F Fijolek, Lawrence Fisher, Leifur Franzson, Dianne M Frazier, Luciana RC Garcia, Maria Sierra García-Valdecasas Bermejo, Dimitar Gavrilov, Rosemarie Gerace, Giuseppe Giordano, Yolanda González Irazabal, Lawrence C Greed, Robert Grier, Elyse Grycki, Xuefan Gu, Fizza Gulamali-Majid, Arthur F Hagar, Lianshu Han, W Harry Hannon, Christa Haslip, Fayza Abdelhamid Hassan, Miao He, Amy Hietala, Leslie Himstedt, Gary L Hoffman, William Hoffman, Philis Hoggatt, Patrick V Hopkins, David M Hougaard, Kerie Hughes, Patricia R Hunt, Wuh-Liang Hwu, June Hynes, Isabel Ibarra-González, Cindy A Ingham, Maria Ivanova, Ward B Jacox, Catharine John, John P Johnson, Eszter Karg, David Kasper, Brenda Klopper, Dimitris Katakouzinos, Issam Khneisser, Detlef Knoll, Hirinori Kobayashi, Ronald Koneski, Viktor Kožich, Rasoul Kouapei, Dirk Kohlmueller, Ivo Kremensky, Giancarlo la Marca, Marcia Lavochkin, Soo-Youn Lee, Denis C Lehotay, Aida Lemes, Joyce Lepage, Barbara Lesko, Barry Lewis, Carol Lim, Sharon Linard, Martin Lindner, Michele A Lloyd-Puryear, Fred Lorey, Yannis L Loukas, Julie Luedtke, Neil Maffitt, J Fergall Magee, Adrienne Manning, Shawn Manos, Sandrine Marie, Sônia Marchezi Hadachi, Gregg Marquardt, Stephen J Martin, Dietrich Matern, Stephanie K Mayfield Gibson, Philip Mayne, Tonya D McCallister, Mark McCann, Julie McClure, James J McGill, Christine D McKeever, Barbara McNeilly
发表日期
2011/3
期刊
Genetics in Medicine
卷号
13
期号
3
页码范围
230-254
出版商
Nature Publishing Group
简介
Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort.
Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile of the normal population. The cutoff target ranges of analytes and ratios are then defined as the interval between selected percentiles of the two populations. When overlaps occur, adjustments are made to maximize sensitivity and specificity taking all available factors into consideration.
Results: As of December 1, 2010, 130 sites in 45 countries have uploaded a total of 25,114 percentile data points, 565,232 analyte results …
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D McHugh, CA Cameron, JE Abdenur, M Abdulrahman… - Genetics in Medicine, 2011